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Biotech Science

Mice Cured of Autism 233

noahisaac writes "My brother just sent me an article he posted for the Rett Syndrome Research Foundation about a cure for Rett Syndrome, a form of autism. According to the article, researchers successfully re-introduced a fully functional version of the MECP2 gene into mice that had been born with damaged MECP2 genes. Contrary to their expectations, the mice improved. In the article's words, 'restoration of fully functional MECP2 over a four week period eradicated tremors and normalized breathing, mobility and gait in mice that had previously been fully symptomatic and, in some cases, only days away from death.' The ramifications for people suffering from Rett Syndrome are obvious, but mutations of the MECP2 gene are also believed to be the cause of 'classic' autism, and a number of other neurological disorders."
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Mice Cured of Autism

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  • by jhantin ( 252660 ) on Thursday February 08, 2007 @09:13PM (#17942698)
    So they spliced a stop codon into the middle of the relevant gene to disable it, then delivered an enzyme all the way to cell nuclei (!) to delete what they spliced in. The next step then it seems is then to find or engineer a proper enzyme to patch a naturally occurring gene defect -- they've basically proven that runtime patching of the genome works. Nice.
  • by Michael Woodhams ( 112247 ) on Thursday February 08, 2007 @09:43PM (#17942990) Journal
    They've reversed (something like) Rett Syndrome in mice, showing that the nerve malfunctioning is reversable. In humans, however, missing vital developmental milestones is not reversable. E.g. normally we acquire grammar by age three, but if for some reason we don't acquire it before the age of about 10, we never will (or only very poorly.) So even if this treatment transfers to humans, it is unlikely to be a complete miracle cure for adult Rett Syndrome (or autistic) people.

    Here's [newscientist.com] another article about it.

  • by tomstdenis ( 446163 ) <tomstdenis@gmCOMMAail.com minus punct> on Thursday February 08, 2007 @09:48PM (#17943038) Homepage
    Arrg, people fling that "syndrome" around, lets see the symptoms from Wikipedia...

    "a lack of empathy, little ability to form friendships, one-sided conversation, intense absorption in a special interest, and clumsy movements"

    Well the empathy thing is common amongst 99% of the population? Don't trust me? Pretend to slip on a busy sidewalk and see how many people stop to see if you're ok.

    Ability to form friendships? Newsflash, most people have a couple good friends a bunch of "people I know". How do you measure if you're "good" at making friends? One sided conversations? Hello weblogs. Intense absorption in a special interest? You mean like people who swear up and down about this that and the other thing without the first damn clue?

    Point is, I'm talking out of my ass, and so are you. You can't read some paragraph description off a website and pretend to be a doctor. I'd bet out of all of /. maybe less than a dozen people would even qualify for a diagnosis of AS, probably less.

  • Re:Jim Sinclair (Score:4, Interesting)

    by f1055man ( 951955 ) on Thursday February 08, 2007 @10:53PM (#17943610)
    Before I edited my post I had mentioned that a "cure for autism" is ethically murky. My point is simply that the response to this news should not be unfettered enthusiasm. There are similar ethical debates within the deaf community. Frankly, I think that the problem is not that scientists provide the option of altering oneself, but that these advances in medicine and technology are often couched in paternalism. It's "we can fix you; make you normal" rather than "here's an option". Some day normal will mean having biotech augmentations of some sort. An exciting option, but if someone tells me that they can fix my product of evolution body I might be a little pissed. Try telling a flat chested woman that those can be "fixed" and see what happens. Many autistics have a similar view.
  • Re:Jim Sinclair (Score:3, Interesting)

    by NeuralSpike ( 968001 ) on Thursday February 08, 2007 @10:55PM (#17943636)
    Finally, someone with a reasonable perspective! Thank you for your post. For all of you who don't know, autism--as far as we can tell-- involves the inability of the prefrontal cortex to integrate perception properly. This leads to difficulty in language to the point that most if not all autistic people do not think in linguistic fashion, but rather think visually. Furthermore, the obsession with specific details arises from this; it is as if an autistic individual sees all of what is in his or her visual field, unlike the rest of us who tend to filter out unimportant details. While we think autistic individuals are "in their own little worlds," in reality, their inability filter stimuli results in them being far more aware of the real world than any "normal" person could be. It's no wonder they have trouble developmentally. I have a migraine disorder that manifests in some very bizarre fashions (migraine != VERY BAD HEADACHE; in fact, I almost never have headaches with migraines) including extremely heightened visual and auditory perception. However, whenever I have this heightened perception it is as if I can only perceive the very small details, textures, and contrasts. Let me tell you, IT IS SCARY. Little things become extraordinarily agitating. I honestly don't know how autistic people deal with it. If I had to live my entire life like that, I'd be sitting in a rubber room wearing a soiled diaper with drool dripping down my face as I stared at one spot without moving my gaze until "snow blindness" kicked in rendering my vision useless. Simply changing the neurological structure of someone who has lived with autism will not undue the mechanisms they have learned to compensate with, nor will it automatically restore normal language functioning. You might be able to teach someone these new skills, but you will not have cured them. You will merely have changed them. As to whether that change is for the better or worse I have no answer--the only person who could answer that is the changed individual. Finally, saying a cure for Rett's is a cure for Autism would be like saying a cure for Rett's is a cure for Cerebral Palsy, since Rett's is about as similar to Cerebral Palsy in terms of movement disorders as it is similar to Autism in terms of developmental disorders.

    On one last note, do not attack this poster for the clarity of this post as he is moderately inebriated.
  • Re:Jim Sinclair (Score:1, Interesting)

    by Two99Point80 ( 542678 ) on Friday February 09, 2007 @12:43AM (#17944492) Homepage
    Well... thats fine for all of you higher functioning types on the spectrum (and the Slashdot Self-Diagnosed Aspergers Posse) but many autistics are *severely* disabled, with no speech, and no chance of an independant life. You can choose not to be treated or 'cured', and that's fine, as your condition is managable. But this could mean that some severely disabled people get the chance to express themselves and *have* an identity.

    I see a few dubious assumptions in that. One is that an "independent" life is more desirable - I have an official HFA/AS diagnosis (and the DSM code is the basis of my username, and see my site [davespicer.org] for several conference presentations I've given) and am dependent on a good-sized support system despite living without onsite staff (well, aside from my wife :-) ). So setting "independence" as a goal can get murky - the whole point of socialization is to develop interdependence.

    Another is that having speech inherently means having good communicative skills. Mine tend to vanish under stress, which is when they'd be the most useful. "Functioning level" is not a constant, and is highly situational. Claiming that "high-functioning" and "low-functioning" autistic folks are very different is very misleading. It also tends to marginalize those autistic folks who can, inconveniently, speak for ourselves rather than giving others the authority to speak for us (and thereby press their agenda on us).

    Another is that one's internal state can be deduced from one's external appearance/behavior. How can you judge the quality-of-life of an autistic person? Saying "Their life doesn't look like I think it should so it's not any good" may be tempting but that doesn't mean it's accurate.

    I'd also suggest taking another look at what might constitute an "identity". It seems from what sociology I've taken that the very humanity of we autistic folks may be in some doubt - but IMO that points to an inadequacy of the definition. Because we don't behave/interface like the "standard model" we are therefore deficient? Make the damn effort to understand us, keeping in mind that behavior is communication too. In the process you will learn a great deal about yourself, and have the opportunity to reconsider what quality-of-life really is.

    Elsewhere in this discussion "Charly" was brought up (well, the story the movie was based on). See the movie, and pay close attention to his response at a conference when he is asked, "What do you see?" What passes for "quality-of-life" among many nonautistic people would be funny were it not so sad.

  • by Anonymous Coward on Friday February 09, 2007 @01:13AM (#17944678)
    As someone who does in fact have Asperger's Syndrome, as diagnosed by a medical professional rather than wikipedia, I can say this, the wiki article is very good, but it is NOT enough to tell you if you have it. To some degree just about everyone has the symptoms, but to a much lesser extent. The lack of empathy is not a lack of compassion or need to help others, it is an inability to "read" people. People with Asperger's typically do not make eye contact when speaking, and when they do cannot decipher nonverbal cues that others would recognize. So, while I do agree with you that most Slashdotters do not have Asperger's, I would encourage you to do less talking out your ass about autistic behaviors when you are posting in a discussion about an article that is about curing autism, Since people who DO have Asperger's are likely interested and reading this it would behoove you to not belittle the problems that we have to deal with every day when interacting with other people.
  • by Anonymous Coward on Friday February 09, 2007 @02:00AM (#17944978)
    Its not bullshit, there are many kids who didn't have any autistic symptoms and subsequently developed them immediately after their shots. A subset of these kids then got much improved upon doing chelation therapy for mercury poisoning. If Autism was just genetic, its rates wouldn't be increasing as more people aren't just magically getting the gene and passing it on to their kids. Its is far more likely that the majority of the kids considered Autistic in the past 10 years have a greater genetic susceptibility to damage by heavy metals, and getting 20 shots that contain mercury before their first birthday put them over the edge. Because what has been increasing sine the late 80s/early 90s is the number of mercury containing vaccines required for babies.

    The idea that there is mercury in vaccines and dental fillings in this country still is just fscking nuts anyhow. Its not necessary in either case and should be banned as it has been in many European countries. For christ sake, we freak out about eating a can of tuna once a week, but we shoot Hg into our babies and put it in our mouth. What a modern society have we..

    For further evidence of mercury toxicity in Autism, see:

    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD= search&DB=pubmed [nih.gov]
  • by DrKyle ( 818035 ) on Friday February 09, 2007 @02:01AM (#17944986)
    All they have proven is that turning the gene back on can alleviate the disease. This is no closer to a cure than any other single gene disease that could be fixed by putting a good copy in. Not only that but most autism has nothing to do with this mutation, most autistics are male and only females get Rett syndrome. The title and summary are the biggest load of non-biologists trying to write about biology I've read in months.
  • by badspyro ( 920162 ) <badspyro@gmai l . com> on Friday February 09, 2007 @05:11AM (#17945826)
    1st off, I am a person WITH autism, and its not all that bad, and infact, I wouldn't change my brain for anything.

    What we are talking about here is a form of gemocide. Have you seen Xmen 3? Its the same thing, as parents fear the words "your child has autism", as, certanly in the US, there is a high proportion of parents wanting only normal and perfect children. Parents with autistic children, can, and do find it hard work, even for people with High Functioning Autism like Aspergers Syndrome. I, for instance, was in 2 different primary schools before they found out why I was misbehaving, and could begin to understand. But would any of the people with autism want to change who they are (after the trials of being a teen)? Nobody I have met and talked to has EVER wanted a cure, and infact we protest AGAINST the idea.

    The people looking for a cure to some of the physiological symtoms, such as speach therapists, and people helping with day to day support, we are OK with, and support at any time we can, however those trying to "cure" us of our mental differences are the same as Hitler in our eyes.

    On one last note, an Autism group in the UK tested all maths aplicants to cambridge one year, and around 80% turned out to have autism of some kind or another.

  • by jedi_chemist ( 995286 ) on Friday February 09, 2007 @10:00AM (#17947264) Homepage
    While Rett's syndrome falls into the rubric of pervasive developmental disorders, it is not technically considered a form of autism, but in fact often mistaken for autism at time of diagnosis. This is because the victims develop normally for the first 12-24 months of life then have rapid loss of social and cognitive skills. Another point is that the overwhelming majority of the patients are female because it is felt the genetic defect is lethal in utero in males and those males that are born generally die in the first year of life. Additionally, unlike autism and Aspergers, Rett's has a definitive genetic link (note they say the the genetic defect _MAY_ be linked to classic autism). Therefore, it is not surprising that someone eventually found a treatment. The etiology of autism is less clear, more likely due to a combinatorial effect of genetics and environment, and is much less likely to be "cured." People in this forum need to get the facts straight before talking about WoW players, /.ers, etc because Rett's is a serious disease.

Life in the state of nature is solitary, poor, nasty, brutish, and short. - Thomas Hobbes, Leviathan