MIT reverses autism in mice

June 26, 2007 5:03 PM

MIT researchers can reverse some symptoms of autism and mental retardation in mice by suppressing a specific enzyme. The research, conducted at the Picower Institute for Learning and Memory, is due to be posted on PNAS Online some time this week. Here is the MIT article. The specific symptoms reversed included hyperactivity, purposeless/repetitive movements, attention deficits and learning/memory challenges. The research was funded by the FRAXA Foundation, the Simons Foundation, the Wellcome Trust, and the National Institutes of Health. According to the CDC, the genetic causes treated by this particular technique (called FXS) affects one in 4,000 males and one in 6,000 females of all races and ethnic groups. I would be interested in hearing about reactions that might be taking place in the various autism-related communities.
posted by christopherious (25 comments total)

But, but I thought it was the vaccines that caused autism! That Kennedy fellow said so!

</snark>
posted by chrisamiller at 5:13 PM on June 26, 2007

Two self-critical comments: 1) I should have used a less sensational title (instead of grabbing CNET's) and 2) I mistakenly referred to FXS as a "technique" in my post, when I intended to use a totally different label. I was being too hasty.
posted by christopherious at 5:21 PM on June 26, 2007

This is a treatment for fragile X syndrome (of which autism is one element), not autism in general. That said, it demonstrates that neural structures damaged during development can be repaired later, a finding which may have more general applications.

PDF of the article (should be open access).

In terms of implications for human health, this looks like a very promising study in a model organism. Much additional work is necessary to find if it is an appropriate therapy.
posted by mr_roboto at 5:38 PM on June 26, 2007

That said, it demonstrates that neural structures damaged during development can be repaired later [...]

In mice.

While sometimes these genetic manipulations hold up in humans, sometimes they don't.

And if they do, they are years, and sometimes, decades, away from an actual FDA-approved treatment.
posted by docjohn at 5:59 PM on June 26, 2007

docjohn writes "In mice."

Yeah, that's what the term "model organism" means.
posted by mr_roboto at 6:04 PM on June 26, 2007

Personally, I don't consider mice as much of a model organism.
posted by IronLizard at 6:12 PM on June 26, 2007

Yeah, they don't hold a pose well...
posted by Samizdata at 6:14 PM on June 26, 2007 [1 favorite]

I would be interested in hearing about reactions that might be taking place in the various autism-related communities.

My son is autistic. My reaction? Thank God that there might be some progress on some front.

I'd really like to be able to tell my son that I love him, and know that he understood me and feels loved.
posted by Cool Papa Bell at 6:28 PM on June 26, 2007

MeFi may now return to its regularly scheduled snark...

Fuck Cheney!
posted by Cool Papa Bell at 6:29 PM on June 26, 2007 [1 favorite]

Way way to early to say anything about it. I think awhile back they had something about this on one of the nightly news shows. I work with a fellow with Fragile X, though he is not autistic. After the news segment the mom of my client was calling me up asking if there was anything we could do because of this new development. *sigh*

As others have noted, there really isn't anything here to have any reaction to. Come back in ten years and perhaps there will be, equally perhaps there won't.
posted by edgeways at 6:37 PM on June 26, 2007

Fuck Cheney!

Is that the Executive Cheney or the Legislative Cheney? Cause I don't know, either way he is squickey and may harbor all manner of communicable diseases.
posted by edgeways at 6:40 PM on June 26, 2007

It would be interesting to note whether the FMR1 gene or something analogous is seen in other conditions, such as Down's or severe autism, etc.

Regarding the Kennedy snark above, I'm curious if anyone heard him on Air America. I must say, I once respected his credentials on environmental issues, but was appalled by how stridently he took after the vaccine industry. And to top it off, after commenting on the dearth of thimerosal-free vaccine, had the gall to crow about how his wife went out and scooped half the doses for flu season.
posted by docpops at 7:27 PM on June 26, 2007

Interesting stuff. I wonder how close the genes governing autism are to ones related to other things like OCD - the "hyperactivity, purposeless/repetitive movements, attention deficits and learning/memory challenges" caught my eye. Thanks for posting it even if the news is too early to celebrate about...
posted by rmm at 8:02 PM on June 26, 2007

the "hyperactivity, purposeless/repetitive movements, attention deficits and learning/memory challenges" caught my eye

Himan mental disorders are typically very hard to model in rodents, especially mice. Lab mice are severely "stupid" and behaviour studies in them are typcally suspect. Memory and behavior studies, especially, in mice usually need to be replicated in rats. Mice are total flakes.

Rats are *slightly* better, in that they can be taught to do stuff and their first instinct to *anything* isn't to run away run away! (in circles and where you don't want them to run, at that) but there are still sever limitations.

However, the mouse genome is better characterized and thus easier to make transgenics and other germlime manipulations.

I wouldn't put too much weight on the symptoms described in mice. Mice already have those symptoms </tongue-in-cheek>.

There are likely many genes involved in autism, likely not all in each individual. It's likely that some of those are also related to OCD but there are probably tons of other genes that are involved in individual cases of OCD.

IAASBIANYS*

_{*I am a scientist but I am not your scientist.}
posted by porpoise at 8:33 PM on June 26, 2007

Himan Human...
posted by porpoise at 8:33 PM on June 26, 2007

Thing is, there is some evidence that autism is at least partially environment dependant. To date there hasn't been a single case of autism reported in the Inuit as part of an ongoing study of that population in Canada. So, in my small opinion, if there is a gene specific to this, it seems reasonable that the gene is also responsible for something besides autism, and simply turning it off may have greater effects than anticipated. Who knows.
posted by edgeways at 8:33 PM on June 26, 2007

Well, I'm not going to let them give it to my brother until after we've gone to the casino.
posted by kisch mokusch at 8:46 PM on June 26, 2007

But, but I thought it was the vaccines that caused autism! That Kennedy fellow said so!


posted by chrisamiller at 8:13 PM on June 26 [+] [!]


Vaccines have contained heavy metals for years (mostly mercury -- thimerosal, widely used for decades, is 51% mercury, an incredibly toxic substance).

Many of the effects of heavy metal poisoning exactly mimic the effects of autism.

While the existence of a link between autism and vaccines is ongoing, consensus has not been reached EITHER WAY.

I know a couple whose child suffered seizures 30 seconds after receiving multiple vaccines at the doctor's office. The doctor said there was absolutely no connection between the shot and the seizures. Within a week, the child had totally shut off from the outside world. It was like watching a light flicker and die behind his eyes.

If there is any chance that this research can explain the causes of autism and save the lives of children, it is a highly worthwhile endeavor.

So quit with the fucking snark, asshole. Some people care.
posted by krash2fast at 8:48 PM on June 26, 2007

krash2fast: I think you'd do well to read more on the supposed autism/vaccine links. It's unsupported by any evidence, and is universally derided in the scientific community. This isn't because of a conspiracy or government cover-up. It's because the claims are based on completely bogus science.

Orac, over at Respectful Insolence, is an MD writes on this topic quite a bit. I think this snippet from a recent post addresses your complaints well:

As much as I might sympathize with how difficult it is for these parents to deal with their autistic children, as much as I might admire their fortitude, such sympathy does not, nor should it, translate into tolerance when they play on that sympathy to advocate pseudoscience. What's being dismissed is not the experience of these mothers, but rather the extreme fallibility of human observation, specifically the tendency to confuse correlation with causation and relying on anecdotal evidence. Calmness or being dispassionate does not exempt them from coming to completely incorrect conclusions about the origins of their children's autism.

I would like nothing more than to help autistic children, but you're not going to find the cause or the cure in your flu shots. Support the researchers who are working hard on this problem, not the publicity hounds who are selling you pseudo-scientific bullshit.
posted by chrisamiller at 9:03 PM on June 26, 2007

consensus has not been reached EITHER WAY

Actually ... it's pretty well tipped toward "not." At this point, arguing for a thimerosal link is like arguing global warming is NOT happening. Sure, some scientists disagree, but the consensus is really leaning the other way.

Vaccines have contained heavy metals for years

Yes, but thimerosal was completely removed from U.S. circulation in 2002, and autism rates went up, not down. This corresponds to studies in Denmark and the UK, where thimerosal was removed in the 1990s. If there were a causal relationship with thimerosal, the rates would logically go down, but they didn't, suggesting either a different cause or improved diagnostics are at the heart of the "autism epidemic."

mostly mercury -- thimerosal, widely used for decades, is 51% mercury, an incredibly toxic substance

Yes, but it's ethyl mercury, which is significantly less dangerous than methyl mercury, upon which most of the mercury studies are based. Not that either is happy happy joy joy, but arguments for the causal link, then, are based on flawed data.

I know a couple whose child suffered seizures 30 seconds after receiving multiple vaccines at the doctor's office.

And my autistic son was born in 2003, one year after thimerosal was gone from the vaccines.

If there is any chance that this research can explain the causes of autism and save the lives of children, it is a highly worthwhile endeavor.

Yes, yes, a thousand times yes. I'd like to know if my son, you know, thinks his shoes are comfortable, but I can't ask him to find out.

The thimerosal finger-pointing is pulling money away from other research and treatment studies. If thimerosal were the cause ... well, it's gone now, so there's no point arguing it, from a scientific perspective.

More reading here, here, and here.
posted by Cool Papa Bell at 9:25 PM on June 26, 2007 [2 favorites]

Any research that is going on that can explain the causes of autism and save lives is a worthwhile endeavor.
posted by believe at 2:14 AM on June 27, 2007

'thimerosal, widely used for decades, is 51% mercury, an incredibly toxic substance'

51% by mass. I'm not sure that's a useful measure of toxicity, and it sounds like a figure that would be thrown about just on the basis it sounds very high. Only 4% of the atoms in thimerosal are mercury for example, so why not say that instead?

It's a bad idea to talk about the toxicity of a chemical based solely on the elements within it, and better to talk about it on the basis of actual evidence of the toxicity of the chemical, and doing anything else just sets off bullshit alarms.
posted by edd at 5:32 AM on June 27, 2007

Correlation is not necessarily causation. Just because a lot of kids who happen to get vaccines end up getting autism does not prove that the vaccines are giving them autism.

We also know an awful lot about toxicity but that's based on massive doses usually of whatever toxic chemical we're talking about. We know next to nothing about what trace amounts of toxic chemicals will do to our bodies/brains/genetics.
posted by geekhorde at 11:37 AM on June 27, 2007

Of course, nearly every kid nowadays gets vaccines. Most kids don't get autism. So it's not even really correlation at that point...

Also, I hope this research is as promising as hoped. It would be great to get rid of autism.
posted by SuperNova at 6:26 PM on June 27, 2007

Hmm. Something seems amiss about MIT's press release, which focuses on autism. Fragile X runs in my family. I'd always thought of Fragile X as conceptually distinct from autism generally. As I remember, it is the second leading genetic cause of mental retardation and is more prevalent in certain ethnicities (european jewish in our family's case). I'm sure our knowledge has increased since I've read about fragile X, but it seems early to drag out all the usual arguments about autism generally, when we're really talking about the symptoms of a very specific genetic failure.

Some personal thoughts: My sister had Fragile X. While most females have mild symptoms (or are simply carriers, like my mother), my sis had it bad. She was profoundly mentally retarded, never learned to speak, and enjoyed little else than holding hands, riding in cars, and eating. She had a largely miserable life, despite loving and generous parents. She habitually hit her head and eye with her palm. To me, it looked like she was trying to free herself from some terrible cloud in her brain. She ultimately blinded herself from the near-constant pummeling.

I think the public's image of mental retardation has been formed by Down syndrome. That's the archetypal retarded kid with the sunny disposition who served as the manager of your high-school football team. That was not our family's experience.

All this to say, a la Ms. America, if this research helps even one child, it will have been worth it.

One last thing: I think that my sister's mental retardation profoundly affected my character and outlook, and I've met other people with mentally retarded siblings who had similar traits and worldviews. At the risk of highjacking this thread, I'd be interested in hearing from siblings of mentally retarded or autistic people.
posted by ferdydurke at 2:23 PM on June 28, 2007