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It's Not in Your Brain, It's in Your Genes
March 1, 2013 3:38 AM   Subscribe

The psychiatric illnesses seem very different — schizophrenia, bipolar disorder, autism, major depression and attention deficit hyperactivity disorder. A study funded by the NIMH and published in The Lancet, as reported by the New York Times indicates that five seemingly-different psychiatric diseases share several genetic glitches.

The findings strengthen an emerging view of mental illness that aims to make diagnoses based on the genetic aberrations underlying diseases instead of on the disease symptoms.

While this research is considered the tip of the iceberg, doctors have had some success in treating the genes that involve calcium channels, which are used when neurons send signals in the brain.
posted by kinetic (49 comments total) 45 users marked this as a favorite

 
It's welcome news that some of the underlying vulnerabilities (if not causes) to psychiatric conditions are beginning to be understood. Understanding how these conditions are triggered and developed is hopefully the first step toward being able to treat psychiatric conditions more effectively. Some people respond to the currently available medcation for psychiatric conditions (antidepressants, antipsychotics, mood stabilisers and so on) but there's a significant minority of sufferers for whom the currently available drugs do nothing to help. It's good to see a glimmer of hope that there might be sufficient advances in understanding to be able to help these people as well. *

In a similar vein, researchers at the University of Missouri found evidence that genetics plays plays a major role in the development of borderline personality disorder. Perhaps it is possible that inherited genetic vulnerabilities plus environmental trigger model also holds true for more psychiatric conditions than have yet been studied.

*Speaking as one of those people myself, it's one of the first signs of hope for recovery I've seen in a long time. It's good to see it.
posted by talitha_kumi at 3:56 AM on March 1, 2013 [3 favorites]


Then there's the fact that schizophrenia can be confused with early-onset dementias.

And dementias, at any age, are themselves related.
Not sure where that leaves us.
posted by vacapinta at 3:57 AM on March 1, 2013 [1 favorite]


The new study found four DNA regions that conferred a small risk of psychiatric disorders.

If there is a genetic marker for these diseases one can expect that knowledge of this will become valuable information for pregnant women.
posted by three blind mice at 4:10 AM on March 1, 2013


Then there's the fact that schizophrenia can be confused with early-onset dementias.

The original name for schizophrenia, 'dementia praecox', just meant 'early-onset dementia'.
posted by painquale at 5:22 AM on March 1, 2013 [1 favorite]


Analysis from the excellent NHS Health News aka Behind the Headlines.
posted by idb at 5:37 AM on March 1, 2013 [9 favorites]


My family has a history of bi-polar disorder on my mum's side and schizophrenia on my dad's. When my mum first met her mother-in-law she became convinced that either she was misdiagnosed or that these disorders came from the same place.

I do worry though that some might think that because the genetic preconditions for certain disorders are similar, that these disorders are the same. I'd hate to go back to a time when my aunt's hypomania was dismissed as 'just having an episode'.

This research looks to be comprehensive and necessary, but sadly I'm just not engaged in the field and can't really gauge the significance and ramifications.

On preview: thanks idb!
posted by dumdidumdum at 5:42 AM on March 1, 2013 [3 favorites]


NHS's Behind the Headlines should be in everyone's bookmarks.
posted by vacapinta at 6:10 AM on March 1, 2013 [2 favorites]


Where's the causation/correlation brigade when they are actually needed?
posted by docgonzo at 6:31 AM on March 1, 2013 [2 favorites]


Where's the causation/correlation brigade when they are actually needed?

Maybe they trusted we'd remember it after they reminded us the last million times.
posted by Jpfed at 6:36 AM on March 1, 2013 [4 favorites]


Where's the causation/correlation brigade when they are actually needed?

That's a hard game to play with genetics, especially when the sample size is large and diverse.

In particular the "Oh yeah? Well maybe something about being bipolar causes their DNA to be rewritten" approach doesn't work very well.
posted by Tell Me No Lies at 6:40 AM on March 1, 2013 [6 favorites]


Behind the Headlines (my emphasis):
Perhaps most importantly, these variations cannot on their own predict or explain the development of autism, ADHD, depression, bipolar disorder or schizophrenia. The researchers point out that – as with almost all genome-wide association studies of complex conditions – the effect of the individual variations identified in these four regions was small, and cannot predict or diagnose these mental health conditions.
I've not done genetics for twenty years, so perhaps someone more current could explain the experiment to me? They took five conditions, assumed they had a common genetic component, ran a big database search, and found the bits of the huge genome that were common?

Couldn't you also run some completely unrelated conditions, find the genome bits that were common, and say that (for example) all of "preferring Van Gogh to Picasso", "owning a Volvo" and "early onset breast cancer" were determined by this gene here?
posted by alasdair at 6:45 AM on March 1, 2013 [3 favorites]


Honestly, it's not that surprising considering the overlap in symptoms, the frequent comorbidity, and the difficulty in drawing distinctions in many cases (e.g., BPD II vs MDD). This is good news as it provides more understanding into the ways these underlying genetic factors can manifest; maybe we can even learn to prevent high-risk people from developing frank clinical expressions of their genotypes.
posted by Mister_A at 6:49 AM on March 1, 2013 [3 favorites]


Part of the problem here is that these different diagnoses weren't really constructed based on any biological basis, but rather on the basis of their symptoms. This isn't a useless way to classify things mind you, but if we get in the habit of intuitively assuming that the diseases have different causes just because they have different effects, we are making an error of reasoning.

It reminds me of the current revolution of classification in biology. We used to classify species solely on their morphological characteristics -- what they looked like, basically. (We still do this by the way, even post-genetic-revolution. We can almost never get genetic information about fossil species, yet we must classify them.) It was a pretty good system but it was operating at several removes from the actual source of variation between species. Once we were able to get our hands on the technology to classify things based on their genes, the field of phylogenetics was born and came up with new classification schemes that reflected the actual evolutionary history of species.

I feel like we are sort of getting to that point in psychology, although it's less of a revolution than a slow, painful process of incremental progress. We have been operating basically in the dark in psychology up 'til now, with no real understanding of the actual biological basis of mental disease. Now, finally, we are beginning to get some glimmerings of insight into what is actually going on inside of someone who presents as mentally ill. They're still just glimmers, but hopefully we will eventually gain a fuller understanding. As that understanding grows however, I expect psychology to undergo a complete paradigm shift.
posted by Scientist at 7:30 AM on March 1, 2013 [11 favorites]


We already had an idea about some of these disorders having a related genetic origin because of the way they tend to cluster together in families. For example, someone with ADHD is more likely to have a relative who has bipolar.

I am excited to see that they're really drilling down on it by looking at the actual genes involved.

I am a little surprised about autism, though, as IIRC it hasn't been associated with the other disorders listed as much as they have been associated with each other. However, I also suspect that "autism" is one word for multiple disorders with similar symptoms, but distinct etiologies.
posted by the young rope-rider at 7:34 AM on March 1, 2013 [1 favorite]


Some of the problem with identifying "glitches" as "dysfunction" is that these are usually not wholly "good" or "bad". An example, DRD4 7 repeat allele tends to be associated with ADHD. Something else interesting about the DRD4 7R is that "The oldest population have a 66% increase in individuals carrying the DRD4 7R allele relative to the younger ones" and it is associated with longevity according to this.

Also "The 7-repeat allele appears to protect against the adverse effect of CA (child abuse) since the decline in resilience associated with increased adversity was evident only in individuals without the 7-repeat allele."

To make that more confusing in another study "Participants with the DRD4-7 repeat (7R) allele who experienced parental problems had the highest scores for unresolved loss or trauma whereas participants with DRD4-7R who did not experience parental problems showed the lowest ratings"

We're tampering with genes that have evolved for durability in a lot of different environment and look at them in a very simplistic "good" or "bad" sense.

For example, you you actually think it's bad to struggle with school while your mom is dying? It could be that the same gene's that cause us to love and be kind, also cause us to be more vulnerable when attacked or experiencing loss. Does that mean creating people with flatter responses to good and bad environments is better? Is it better to create people who don't feel physical pain when being tortured, or better to reduce incidences of torture? And what is the COST of removing sensitivity to physical or emotional pain? Etc. These things are not as simple as "people who have deep emotions and are therefore prone to mental illness are diseased and these genes are bad". Why would these genes be so common in populations if they were really so detrimental?
posted by xarnop at 7:35 AM on March 1, 2013 [22 favorites]


From the Behind the Headlines link: ". The consensus is that a combination of genetic, biological and environmental factors contributes to their development." I have virtually no scientific background, can anyone help me decode that? I understand genetic to be the basic DNA/genes that are in utero, environmental to mean the social supports (family etc) that one is raised in as well as the impact of nutrition/licking lead paint/maternal health during pregnancy but what exactly is meant by biological factors?
posted by saucysault at 7:46 AM on March 1, 2013


*sigh* More biopsychiatry.

From idb's link:
"The researchers have stated that the effects of the genetic variations are small, and that on their own the variations would not be useful for predicting or diagnosing these conditions.
It is also simplistic to regard mental health conditions or behavioural problems as being purely genetic. There is a wide range of rigorous evidence that shows that environmental factors are also involved."
That a study with small effect sizes and little predictive power makes headlines is a reflection of the widespread assumption that mental illness is primarily due to nature and not nurture. What about risk factors from poverty, isolation, poor diet, stress, sedentary lifestyles, lack of community, social upheaval, and other common conditions in western society?

The study was only performed on people of European ancestry using the criteria of the DSM. (read: westerners) When about one in four american adults suffers from a diagnosable mental disorder in a given year, maybe we aren't looking at abnormality anymore - not genetic "glitches", but a harmful society that manifests itself as individual suffering for people with certain natural genetic variations.

Of course you can find genes that correlate with various conditions - but failure to behave normally in modern society is not necessarily a sign of biological dysfunction. Mental illness can be equally explained as the correct operation of a natural biological mechanism in a highly unnatural environment. But of course that generally goes against the individualist assumption of western culture - that any individual suffering or dysfunction has individual causes - so it's always easier to say that the fault is in our genes than in the environment.

I say all of this as someone with a history of depression. I'm not denying the existence of suffering or abnormal behavior. But the genes-and-biology perspective of mental illness can be harmful and paradoxically does not decrease stigma, despite removing blame from the individual:
“The results of the current study suggest that we may actually treat people more harshly when their problem is described in disease terms,” Mehta wrote. “We say we are being kind, but our actions suggest otherwise.” The problem, it appears, is that the biomedical narrative about an illness like schizophrenia carries with it the subtle assumption that a brain made ill through biomedical or genetic abnormalities is more thoroughly broken and permanently abnormal than one made ill though life events. “Viewing those with mental disorders as diseased sets them apart and may lead to our perceiving them as physically distinct. Biochemical aberrations make them almost a different species.”
posted by Wemmick at 7:48 AM on March 1, 2013 [11 favorites]


We already had an idea about some of these disorders having a related genetic origin because of the way they tend to cluster together in families. For example, someone with ADHD is more likely to have a relative who has bipolar.

Yes, this. I'm diagnosed bipolar and it was funny in a way when I finally got this diagnosis and we were going down the family history with my psychiatrist. My parents had never really talked about it before but it brought a lot of stuff out of the woodwork. With my close relatives alone, an aunt is schizophrenic (and had been put in a mental institution for many years starting at the age of 16--somewhere in the late 1970s--before they could get her stable enough to be out in the world) and two uncles are bipolar. Frankly we've wondered about my father given his dramatic mood swings, but he's not about to see a doctor about it.

It's hard though, because you can't really go back very far because these diagnoses just didn't exist until relatively recently. Apparently there's been a pretty long line of things you don't talk about in my family history, all on my father's side. People institutionalized, things like that. And though I in no way mean to imply that this violent behavior was necessarily caused by one of these mental illnesses, somewhere in my great great great uncles we had a convicted axe murderer, who is a person I've always wondered about.


So I'm glad we have more solid ground to stand on here with defining a more clear link, and having autism on the list was news to me as well. Here's to increased understanding and quality of care--I don't want anyone to have to suffer the way my schizophrenic aunt did.
posted by six-or-six-thirty at 8:01 AM on March 1, 2013 [1 favorite]


The rate of mental illness in the USA is 2-3x that in many other less-unequal western countries. Funny how the NIH is so willing to keep funding studies we can summarize as "it's genetics!" even when the researchers are saying "the effects of the genetic variations are small, and that on their own the variations would not be useful for predicting or diagnosing these conditions."

It's not our brains, it's not our genes. It's our shitty society, stupid.
posted by crayz at 8:28 AM on March 1, 2013 [3 favorites]


I see that this seems related to calcium signaling. This may help explain the anecdotal evidence pointing to vitamin D in treating depression as vitamin D is related to calcium regulation. I think that may be something worth investigating. Am I off base here? Is it possible we could find a way to do genetic test and see if some depressions are related to calcium signaling and treat only those with vitamin D? Or am I Brosciencing here?
posted by The Violet Cypher at 8:28 AM on March 1, 2013 [1 favorite]


For example, you you actually think it's bad to struggle with school while your mom is dying? It could be that the same gene's that cause us to love and be kind, also cause us to be more vulnerable when attacked or experiencing loss. Does that mean creating people with flatter responses to good and bad environments is better? Is it better to create people who don't feel physical pain when being tortured, or better to reduce incidences of torture? And what is the COST of removing sensitivity to physical or emotional pain? Etc. These things are not as simple as "people who have deep emotions and are therefore prone to mental illness are diseased and these genes are bad". Why would these genes be so common in populations if they were really so detrimental?

This makes me think about how overcompressed music on the radio is nowadays (yes, git offa my lawn). It's like we're removing all the dynamics from human interaction, which leads to...

It's not our brains, it's not our genes. It's our shitty society, stupid.

Indeed. All that said, with the history of these disorders in my family, I'm glad research that's not just funded by pharma companies continues.
posted by digitalprimate at 8:45 AM on March 1, 2013 [2 favorites]


We're tampering with genes that have evolved for durability in a lot of different environment and look at them in a very simplistic "good" or "bad" sense.

Change "a lot of different environment" to "hunter-gatherer tribes" and this makes a lot more sense. Both our social structures and nutritional environment changed radically with the invention of farming, and evolution hasn't had nearly enough generations to adjust us for that.
posted by localroger at 8:50 AM on March 1, 2013


Couldn't you also run some completely unrelated conditions, find the genome bits that were common, and say that (for example) all of "preferring Van Gogh to Picasso", "owning a Volvo" and "early onset breast cancer" were determined by this gene here?

No one is saying "these illnesses are determined by this gene here" in the original study. They're saying "hey, isn't it interesting that these genetic features are somewhat overrepresented in these populations (people with certain psychological ailments); that suggests we might explore these genes more in order to think about ways of treating these ailments."

And yes, if you were to do a large scale study and discover that people who prefer Van Gogh to Picasso are, in a statistically significant way, more likely to have Gene A than Gene B that would be potentially very interesting research that would suggest all kinds of interesting pathways for future research in the relationship between genetic makeup and cognition.

"Stupid people might misunderstand the implications of this research" is not a critique of the research itself, nor, in itself, a reason not to do that research.
posted by yoink at 8:59 AM on March 1, 2013 [2 favorites]


The rate of mental illness in the USA is 2-3x that in many other less-unequal western countries.

I don't doubt this claim (or this graph) per se, but I'd like to know more about the methodology behind it.
posted by Sticherbeast at 9:13 AM on March 1, 2013


What about risk factors from poverty, isolation, poor diet, stress, sedentary lifestyles, lack of community, social upheaval, and other common conditions in western society?

"...there's a fine line-- by which I mean gigantic chasm-- between mental illness as a result of a 13q33 polymorphism and mental illness due to living in a house where roaches crawl through your hair while you sleep. What the hell is Abilify supposed to do for that? You're going to need heroin."

The rate of mental illness in the USA is 2-3x that in many other less-unequal western countries. Funny how the NIH is so willing to keep funding studies we can summarize as "it's genetics!" even when the researchers are saying "the effects of the genetic variations are small, and that on their own the variations would not be useful for predicting or diagnosing these conditions."

It's not our brains, it's not our genes. It's our shitty society, stupid.


"The rise of psychiatry parallels the rise of poverty in industrialized societies. The reason you see psychiatry in the U.S. but not in the Sudan isn't because there's no money for it in the Sudan, but because there is not enough money in the US to make some people feel like they're not in the Sudan. Hence Zoloft. It is the government's last resort to a social problem it may or may not have created, whatever, but has absolutely no other way of dealing with. Predictably, world psychiatry will also be the temporary solution to world poverty until the aliens return to see what became of their 6000 year experiment. So invest in Pfizer, it will only go up. It has to."

The Last Psychiatrist on Psychiatry & Society
posted by j_curiouser at 10:18 AM on March 1, 2013 [1 favorite]


"They're saying "hey, isn't it interesting that these genetic features are somewhat overrepresented in these populations (people with certain psychological ailments); that suggests we might explore these genes more in order to think about ways of treating these ailments."

But that's still exactly the problem. We're presume that getting trauma after sexual abuse is a sign of a biological "disease" or that having a hard time in school when you're a creative thinker and the system is set up for obedient people who think exactly in the way the teacher tells them to think and feel ok with that.

We're set up humans who fit into the boxed system as healthy and people who have a problem with is as unhealthy and calling them diseased when the truth is many people have strengths and weakness that can be worked with to help them contribute in ways that would be beneficial to society if we stopped assuming everyone has to fit in the standardized behavioral codes that are only going to get worse.

When you raise animals in a grey rooms with no plants, no sun, and no behaviorally appropriate activities, and them some of them seem to be "sick" don't then engineer a drug to pump them full of so they fall in line and don't put up a fuss when their environment gets progressively worse and worse. We should stand up for our needs. When our environment isn't meeting them, we should be discontent. We are humans, we can use our intelligence to make our environments suit humans.
posted by xarnop at 10:59 AM on March 1, 2013 [8 favorites]


Couldn't you also run some completely unrelated conditions, find the genome bits that were common, and say that (for example) all of "preferring Van Gogh to Picasso", "owning a Volvo" and "early onset breast cancer" were determined by this gene here?

This is actually one technique that people commonly use as sort of a negative control in GWAS studies. Instead of grouping people by disease status, you group people randomly and repeat the analysis several times. This gives you a sense of what kind of effect sizes you can expect by random chance alone. (For more info see "permutation testing" under 6.3 here.)
posted by en forme de poire at 11:06 AM on March 1, 2013 [2 favorites]


Also elaborate long term mourning and suffering after losses, especially developmental losses like an absent (or emotionally absent) parent makes sense in a species with high social need for long term bonds. There are strengths in this kind of depth of feeling, but a death or a tragic loss, or missing attachment during early periods can turn a strength into a vulnerability. If we presume aching of the soul is innately a "disease" we miss the strengths these same people have when they aren't subjected to tragic conditions in early childhood.

And if you read more about epigenetics and the capacity for environmental factors to affect gene expression, it honestly is UNLIKELY that cells don't produce best guess of mutations that might assist with adapt to new environmental conditions.

Don't tell me Lamarck was proven wrong so therefore this idea makes no sense- Lamark postulated some ridiculous levels of detail into his theory and the kind of experiments they did to "disprove" the idea the environment might induce cells to mutate in specific ways was proven wrong by cutting of rats tails and noticing the new rats weren't born with missing tails. That is not an experiment that proved cells can't profile environmental factors in the cellular environment and create mutations that are best guesses of potential benefits.

If you read about how bacteria adapt to toxins, they can adapt to specific toxins which means some cells, with the adaptation will survive toxic exposures and others won't.

But in an environment WITHOUT TOXINS if you compare survival and health of the cells, the cells without the mutation do much better. So there are costs and minuses of different types of adaptations in different environments. What I mean to say is if your immediate family environment there was a lot of child abuse, war, poverty, famine your genes may be set up to deal with those factors and not to deal with boring school systems designed to create obedient robots. You might get adhd, and that might legitimately suck, but you might survive nutritional deficiencies and toxic housing ingredients better than others.
posted by xarnop at 11:16 AM on March 1, 2013


Also considering that poverty ran in generations for a long time, it's funny that a lot of traditionally poor people behaviors are called mental illness.

These people were living on stale bread and moldy cheese and watered down milk for generation after generation. No they don't read as well and they have tempers and they don't focus on the finer aspects of literature as well but they can survive living around sewage and barely eating and enduring sex work to feed their families and keep their house. Yeah I would imagine there would be different genetic profiles associated with that for good reasons.
posted by xarnop at 11:19 AM on March 1, 2013 [2 favorites]


My coverage of this for TIME is here, with comment from the director of NIMH about the way this may help get us towards a better diagnostic symptom.

And yes, it's important to fight the idea that a "brain disease" means that you are irreparably broken or implies anything about causality. It's always going to be not just genes, not just environment, but also timing and social setting and the person's interpretation of the experience, etc.
posted by Maias at 11:35 AM on March 1, 2013


But that's still exactly the problem. We're presume that getting trauma after sexual abuse is a sign of a biological "disease"

But, again, who is doing that here? You're arguing with a straw man. No one involved in the research is saying "and so we've discovered the sole and absolute cause of mental illness!" No one is saying that environmental factors are unimportant or should not be considered. But if you find, for example, that people with genetic factor A are twice as likely to suffer debilitating trauma after sexual abuse than people with genetic factor B who have also suffered sexual abuse then you'd be a fool to say "well, we'd better just ignore the genetic component here because some idiot out there might not realize that the abuse was also an important factor," no?
posted by yoink at 11:41 AM on March 1, 2013 [2 favorites]


And if you read more about epigenetics and the capacity for environmental factors to affect gene expression, it honestly is UNLIKELY that cells don't produce best guess of mutations that might assist with adapt to new environmental conditions.

The two halves of this sentence do not make sense together. Epigenetics by definition does not involve mutation. The epigenetic mechanisms that have been studied so far involve heritable changes in gene expression - again, independent of the underlying DNA sequence.
posted by en forme de poire at 11:57 AM on March 1, 2013 [1 favorite]


But what if we could find a gene associated with being sad after someone screams in your face. Some people don't get sad, some do. What if people who get sad when verbally attacked do so because they are very social and good with people and that is tied in with their strengths? A strength can also create a vulnerability depending on the situation.

I still see the labels as being "This person with the problem behavior of finding sexual abuse traumatic has a disease because they don't tolerate sexual abuse well."

I'm just... not seeing that as useful and I see it as othering. But that's just my perspective. I respect you see it differently.
posted by xarnop at 11:59 AM on March 1, 2013


It's not that the researchers themselves are saying this; I don't think there are any real problems with the study per se, but when this kind of exploratory research makes the news, it reinforces the widespread idea that "genes cause mental illness". It's the nuance that gets lost in the headlines. These genetic variations can increase the risk of mental illness, but don't imply direct causality or even that the genetic variations are "glitches." They could simply increase a person's vulnerability to a damaging environment. From this perspective, the mentally ill look less like sufferers of a disease than the canaries in the coal mine of modern society.
And by primarily focusing on genetics, we implicitly influence the approach taken to treating and preventing mental illness. The solution to a biological problem is medication. The solution to an environmental one is a better environment or societal reform.

And in response to xarnop, I'd be reluctant to interpret mental illness as some kind of Lamarckian response to poverty or throw around the term "epigenetic" carelessly. And though mental illness *is* more prevalent in the poor, I doubt they're significantly genetically different from the affluent.
posted by Wemmick at 12:02 PM on March 1, 2013


I read the actual paper. While I liked it a lot, I have two concerns:
1. The study was done on only European population. Since there could well be regional and ethnical variations on SNPs frequencies more needs to be done.
2. Two of the SNPs were located in introns, which are spliced out during the final assembly of the gene. (I'm aware that mutations in splicing regions also could also cause diseases, but this will be a much rarer event)

May the Force be with all scientists whose grants will disappear with the incoming sequestration.
posted by francesca too at 12:03 PM on March 1, 2013 [2 favorites]


" The epigenetic mechanisms that have been studied so far involve heritable changes in gene expression - again, independent of the underlying DNA sequence."

So far. To me, it would be completely unlikely that genes capable of responding to environmental variables and capable of mutation would not profile that same information during reproduction. De novo mutations are quite common, some being the result of damage and some resulting in beneficial mutations. I simply find it logically unlikely that cells wouldn't profile information about environmental variables and produce adaptations that might serve the cells survival purposes. I would not expect anyone to agree with me on that, but I also don't think it can at present be ruled out as a possibility. Cells do alter rates of mutations due to environmental variables and as we get better as studying environmental factors and their associations with de novo mutations I think we will find some patterns emerge. But of course, the science will uncover what it uncovers.
posted by xarnop at 12:05 PM on March 1, 2013


I also think many mutations are the result of damage whether viral or toxic etc. Repairing the DNA is a good thing, we just need to make sure we actually know the difference between injury and difference.
posted by xarnop at 12:07 PM on March 1, 2013


Xarnop, I can appreciate that you see the labels involved in diagnosis as othering and stigmatizing, and are concerned about an overemphasis on a biological basis for conditions, as opposed to a focus on intolerable societal conditions that make life difficult for people both with and without such diagnoses and genetic profiles.

That said, while we're on the topic of othering, you might want to be a little more considerate with your characterizations of people who are impoverished, or families that have endured generations of poverty. Because they don't deserve to be stigmatized and stereotyped, either.
posted by evidenceofabsence at 12:42 PM on March 1, 2013 [1 favorite]


From a brief perusal of the data, it sounds like having one of these two mutations puts one at risk of developing what we consider an abnormal psychology but isn't actually fingered as a cause. If I'm reading their paper right, it is more like a small defect in the heart making one susceptible to heart attacks under certain conditions, this rather than being born with a heart that is constantly freezing up, stuttering, and making a fuss.

So it sounds like it is still mostly your-brain-done-itself-in as opposed to your-ancestors-done-your-brain-in.
posted by Slackermagee at 1:18 PM on March 1, 2013


If you believe, as i do, that anything that happens in the mind happens physically in the brain, then anything in the mind, including eg paranoia (to avoid debating psychiatric diagnoses), will be locatable in the brain as a concrete difference. Therefore, the two stages of scientific research are first, to look for and find the concrete changes, then, to establish causation, which usually requires longitudinal study which is double-blind, as time sequence is the accepted standard. Obviously there are eg philosophical, political, sociological, emotional, folklore, psychoanalytical & psychological approaches too.
posted by maiamaia at 3:32 PM on March 1, 2013


I don't think there's anything disrespectful in pointing out that child abuse and poverty and poor health variables such as air quality, sun light, diet exercise--- can alter people's ideologies, beliefs, behaviors, and instinctual behavior patterns.
There are generations of people enduring these conditions. Yes I know plenty of people who have had to become assertive and aggressive to get any food or attention or respect at all. I think people pass these things on to their kids, yes. If a person didn't have to adapt "maladaptive" behaviors or ideologies to survive they didn't.

Poverty to me is defined as a lack of the needed environmental variables and resources to develop in a healthy way. Some people are "poor" but have relatively healthy environments that meet their needs. Some people are wealthy but are being emotionally neglected or aren't accessing certain activities/connections/nutrients etc that would allow them to have health and develop properly.


I apologize if you or others took offense to the idea that poverty can be destructive to human health and mental well being but I stand by that. It certainly can be, and no one should be ashamed for being affected by poverty and surviving however they can, even if their coping mechanisms don't translate well outside of the situation of scarcity.
posted by xarnop at 6:05 PM on March 1, 2013 [1 favorite]


I didn't take offense to the idea that poverty can be destructive to human health and well-being. It's more the broad caricature of poor people as less literate, short-tempered, living around sewage, and engaging in sex work. It's not necessary to your argument, and it's pretty condescending.
posted by evidenceofabsence at 8:02 PM on March 1, 2013 [1 favorite]


One thing to note is that in the US, if you're poor and have darker skin you're more likely to be diagnosed with schizophrenia or schizoaffective after a first psychotic episode, whereas if you're lighter-skinned or richer you're more likely to be diagnosed with bipolar. There's a lot of work examining the longitudinal stability of these diagnoses over time and factors that influence this stability, but it's worth noting that the schizoaffective diagnosis was created precisely to increase an originally terminally embarrassing lack of diagnostic stability over time.

I'm actually very excited by this paper. The accompanying editorial had a nice image that explained the multifactorial origin of psychiatric disorders, integrating genetic loading among a whole bunch of other known risk factors. And it pointed out an interesting link between the lithium and calcium homeostasis via an intracellular calcium releasing receptor and second-messaging system, possibly illuminating a mechanism.

Tacrolimus and other calcinurin inhibitors also target this receptor (inositol-1,4,5-triphosphate), which explains why this class of immunosuppressives often have psychiatrically destabilizing effects. Prednisone and dexamethasone lead to transcriptional up-regulation of this receptor, and are notoriously pro-psychotic and pro-affective instability. Calcineurin knockout mice demonstrate behaviors associated with a schizophrenic mouse model, which is interesting.
posted by meehawl at 8:41 PM on March 1, 2013 [3 favorites]


Maias: "My coverage of this for TIME is here, with comment from the director of NIMH about the way this may help get us towards a better diagnostic symptom."

You know, I just read your quote from Dr Insel and it's just off:
Insel compares the situation to diagnosing people with malaria, the flu and a bacterial infection as having the same disease. “All of them have a fever of about 103 and they look really miserable, with sweating and muscle aches. Under the DSM, they’d all have same thing".

It seems odd that any practicing psychiatrist would boil it down to this, and it's presenting a caricature of the DSM that seems to exist almost exclusively outside of psychiatry. It's beaten in to psychiatrists that the DSM is a guide to nosology, not etiology. One reason the DSM is so ridiculously padded is there's a bunch of stuff for the primary disorders about time of onset, duration, quality, etc that lets you tag a presentation as one thing vs another. Med students learn this these qualities for separating disease phenotypes using "origin, location, duration, alleviating, relieving, etc". Any reasonable medical interview with a patient is going to usually between these different diseases that all have fever and muscle aches as a symptom. Same thing with a psychiatric interview. You can run down the symptom shopping list, but the periodicity, timing and onset requirements are also crucial.

But it's nice to be moving towards incoporating some etiology. Take heart failure for instance. We know what it looks like as a presentation, and any ED in any developed nation is full of people in "heart failure". But there are a few key symptom clusters that we assign tags to, such as 'volume overload' or 'cardiogenic shock' or 'right-sided failure' or 'left failure' or 'regurge', etc. And based on these tags, we treat those presentations differently. But within those tags, we know quite a lot about some of the structural or toxic or even genetic etiologies that lead to those presentations, but we also sometimes know very little about some of the other etiologies that are frankly cryptic or indeterminate, or we know so little about, say, the vulnerabilities of different myocyte genetic polymorphisms that even a full genetic anaysis would not help guide treatment. Knowing the etiology can help guide treatment or, more frequently, prevention or post-acute care. But in cardiology medicine, just as in psychiatric medicine, sometimes we just treat the symptom cluster using heuristic and algorithmic approaches that we've found kill the least number of people compared to other approaches, and seem to have some relative benefit. Etiology is nice to have, but it's sometime not essential for treatment.
posted by meehawl at 9:08 PM on March 1, 2013 [2 favorites]


"I didn't take offense to the idea that poverty can be destructive to human health and well-being. It's more the broad caricature of poor people as less literate, short-tempered, living around sewage, and engaging in sex work. It's not necessary to your argument, and it's pretty condescending."

I've done whatever reading I could find about poverty in european history and the conditions involved, so since I was referring to what the poor have had to deal over time. Of not all people who deal with poverty face these conditions, but these have been, and in some parts of the world continue to be. In general, whenever people have poor health, poverty, and disability and are socially stigmatized/isolated their ability to maintain a healthy home can become impaired.

I certainly did not intend to describe the fact that many poor people over human history have had to endure such conditions- and that poverty can make it virtually impossible to escape such conditions, as a caricature about all poor people. Statistically it is more common for people facing poverty to deal with difficulties in school and to have behavior/conduct problems. These observations have been made throughout history when poverty began to be a thing that existed in contrast to people who were not in poverty. I.e. it became possible to observe that people trapped in worse conditions do seem to be statistically more likely to have certain difficulties, behavioral problems, and personality styles. I think people become who they need to be to survive their environments.

I'm not sure that you're really upset with my discussion of the conditions poverty can create or the coping mechanisms people sometimes needs to develop to cope or if you were just trying to suggest that I shouldn't disagree with labels or terminology because "SEE if someone points out problems in your own classification system it will just result in everyone pointing out every tiny detail that could be misconstrued as a demeaning classification". In which case I respectfully disagree with you, as someone who comes from poverty and has lived in various degrees of poverty- and as someone who will literally be defined and treated by society and support systems in relation to how scientists decide to define me; it matters a great deal.

Slandering poor people would be awful too, but if you like I can just present some of the statistics about behaviors and health problems and parenting styles as relating to socioeconomic status so we can discuss what I'm looking at specifically.

For me, because we can see what is happening during the body during times of "psychiatric problem" it doesn't mean the solution is medical any more than isolating what the body is doing during grief, mourning, or social rejection means the solution to those biological findings mean we're looking at a "medical problem." Emotional and mental processing involves processes in the body. The fact that people who have been in terrible conditions have different biological processes does not mean the biological processes are "Diseased" and the solution is to insert chemicals into the person until their biological processes look like people with totally different ancestral, prenatal, and early life circumstances.
posted by xarnop at 5:15 AM on March 2, 2013


And yes I think pointing out that poverty itself can generate "psychiatric" problems and that we tend to see the solution to kids living in poverty, abuse, and strife as to medicate them rather than address the actual source of the problem-- is a real thing in the world. We would rather invest tons of money researching poor, abused, and struggling people's brains to tell them how they are different than everyone else and what drugs they need to be pumped with then have the dignity to see human beings as complex beings surviving complex circumstances over generations and actually invest in whole family health and working against poverty.

We've turned poverty, grief, destruction of the spirit, anguish and pain into psychiatric conditions with biological correlates when we could also look at the bodies of athletes and see there are biological differences but we don't label those differences as "disease".

The desire to label these differences as disease IS political and ideological and a sign of the fact we see humans in need of understanding and support and love as inherently diseased.

I like genetics and neurobiology but I almost always disagree with the framework that is the BASIS of why we are researching this stuff in the "mentally ill" and what we plan to do with it. We could use that information to ensure families have the right resources to support their children in healthy ways- identifying their emotional and physical needs and ensuring they have access to activities, peers, learning, food, and environments that meet those needs. We could address the reality that many families DO NOT HAVE THE MONEY to do the things that need to be done to fill their children's needs, or to heal from their own emotional wounds, or to make it through the day at all without some heavy duty crutch/coping mechanism that might itself impede their ability to be present and relate to their child.

Like I said, money is itself not the sole factor that drives environments that don't meet people's needs, but our system utterly fails to uncover what is going on in families where kids are having problems. Labeling the kids as diseased because they aren't getting the right kind of love and direction they need, or the right kinds of foods, exercise, clean air...

It's fine to admit "We don't know how to help families meet their children's needs right now" but to use labeling of humans in adverse situations to PRETEND the problem is in the child's biology is denying a human being the right to say "Actually I'm just like anyone else and these circumstances SUCK." It's denying them the right to internalize their own emotional regulation system and read accurately what that information tells them about their environment and their own needs.

It has the potential to MAKE PEOPLE WORSE. They are no longer allowed to learn from and trust their emotions, they are no longer allowed to seek social support for their emotions because their emotions are telling them lies, lies spoken through bad genes.

If this is not true- we are harming by using "medicine" to treat human need for validation, pain expression, understanding, and social support. And failing to address the real problems creating people who have to contend with high levels of pain and use various biological/ideological/and behavioral coping styles to endure or shut the pain out.
posted by xarnop at 5:51 AM on March 2, 2013 [1 favorite]


1) The instances of psychiatric "disorders" in the US is exponentially higher than other countries can be correlated directly with the financial aspect of our health system. i.e. we have higher instances because we have more people looking for these sorts of things.

2) The concept that "thinkers" are more prone to depression isn't necessarily a result of "bad genes". Think of all of the great things that have come from what we would consider depression; Degas, Dickens, Diana, Denver (John), Dickenson (Emily), Dostoyevsky... and that's just the D's.

While the concept that there might be a causation effect between depression and extraordinary things is a completely different thread, but it's not fair to say that everybody considers these things as "bad". But learning more about them is definitely something we should be doing.
posted by Blue_Villain at 8:17 AM on March 2, 2013


I still see the labels as being "This person with the problem behavior of finding sexual abuse traumatic has a disease because they don't tolerate sexual abuse well."

But if someone attacks me in an alley and breaks my arm, does it follow that my broken arm is being treated by the medical establishment as a symptom of not tolerating assault and battery well? My point here is that of course we can and should work towards a society where people do not have to fear sexual abuse (or random physical violence), but I can't think of a reason why we wouldn't also try to help people who are already living with its effects to recover.
posted by en forme de poire at 12:47 PM on March 2, 2013


Think of all of the great things that have come from what we would consider depression; Degas, Dickens, Diana, Denver (John), Dickenson (Emily), Dostoyevsky... and that's just the D's.

Creativity is not the flip side of depression. They could have created just as well without the lifelong suffering.

It's a shame that people have attached such a romanticism to depression. You never hear anyone say "Yeah but think of all the people who's tremendous art stemmed from polio!"
posted by Tell Me No Lies at 12:35 AM on March 3, 2013 [3 favorites]


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