Disturbances in certain genes play a role in autism

19 Aug

OK, so not ‘new’ news. I want to look at this story’s opening as a kind of case-study into what binds and separates the autism community.

[researchers have]…found in a new study that autism can be partially explained by abnormalities in certain genes. The group’s results could, in the long run, pave the way for more appropriate treatments for autism.

Now, camp one, to which one could add the Age of Autism anti-vaxxers would snarl at the uselessness of this study. They ‘know’ that genes play little to no part in autism and that the real issue is that of vaccines.

Camp two, to which one could say shades into camp one and who you could add Harold Doherty to would bemoan the fact that yet another gene study had been done, would ignore the successes it has brought in terms of giving us more data and grump about how ‘the environment’ had been ignored.

Camp three, to which you could add Lisa Jo Rudy’s autism.about.com site would acknowledge that this was an interesting study but maybe ask valid questions about the context into which you could place this one single study. Knowing Lisa Jo she would also be interested in what exact therapies might be on offer as a result of this study.

Camp four, to which I would hope you could add LBRB and which possibly shades into camp three a little too, would be interested in the the story behind the science as well as the science itself, would hope to get an interview with one of the authors and would ask them what future science might ‘spin off’ from this study. Depending on the answers we might also editorialise a little on the need to be responsible with the science.

Just an interesting little game, of no import, as to how the community – itself a spectrum – is separated. Some say this is a bad thing and that we need unity. I disagree. I think we need diversity, as I do in most things. We even need an Age of Autism to play the token fool.

15 Responses to “Disturbances in certain genes play a role in autism”

  1. passionlessDrone August 19, 2010 at 17:13 #

    Hello friends –

    The full version of the paper is available here:

    http://hmg.oxfordjournals.org/cgi/content/full/ddq307v2?view=long&pmid=20663923

    It’s a depressing read if you were hoping that we learned much of anything. Lisa Jo isn’t going to find anything about treatments here; it looks like a gift wrap for a Mark Blaxil commentary, and Harold Doherty may have a point with this paper.

    Essentially it is a negative paper; after genotyping 1300+ families for over 1 million mutations, the paper found one SNP that seemed to be associated with autism.

    After testing 1 million SNPs for association with ASD, we identified in one of our set of four primary analyses one SNP, rs4141463, in MACROD2 crossing a preset threshold of P < 5 x 10–8. Three other SNPs crossed this threshold in the context of exploratory analyses, making their interpretation more difficult due to multiple testing.

    There isn’t much, apparently, known about the product of this gene, though CNV studies have shown it to be found in some of the usual places.

    The authors state that this study was hindered by a relatively small number of participants for a genome wide anlaysis.

    All of these results spring from a relatively small sample size for GWA studies (n 1369 families), limiting both our power to detect association and the certainty of the associations detected. Unbiased estimates of odds ratios detected by GWA studies are typically in the range of 1.1–1.3; to have good power to detect such effect sizes requires many thousands of samples, which is beyond the reach of the autism genetics community at the moment. This issue could at least partially explain why most genomic regions with prior evidence of SNP associations for ASD risk garner little support from our data

    There is a lot of bellyaching about wasted dollars, time, and researcher brain power if someone suggests vaccination actually gets studied, but here, we seem to have a study wherein four thousand people were genotyped on a paper with dozens of authors, when it was well known in advance that they were undertaking the research with an insufficient number of participants to detect the types of problems they were looking for. This makes me wonder why, exactly, this study was undertaken at all, to be honest. (?)

    I don’t know which camp my thoughts put me in, exactly.

    – pD

  2. RAJ August 19, 2010 at 17:40 #

    Kev, you forgot camp five. The most startling deveopment in the genetic studies over the last few years is the new finding of de novo genetic mutations and variants representing ASD risk. When you look at the genetic syndromes, virtually all save Fragile X are represented by de novo mutations. Rhett Syndrome, Down Syndrome, Angelman Syndrome, Tuberous Sclerosis, 16P11 syndrome are all primarily caused by de novo mutations with some cases inherited by a de novo mutation traced to a parent or founder member. De nov copy number variations are seen with increasing frequency in ASD and other developmental conditions and parental age is a risk factor for germ-line de novo genetic mutations.

    De novo mutations are not present in the parents and now represent a ‘mousetrap’ to the theorists whose concept of ASD is a continuum of autistic-like traits or broad autism phenotype in affected and unaffected family members. De novo mutations are not present in the parents therefore these genetic variants cannot possibly be associated with the broad autism phenotype or autistic-like traits.

    It’s a trap that the ‘parents are autistic, but not handicapped’ crowd have no explanation for.

  3. Tom August 19, 2010 at 19:16 #

    “It’s a trap that the ‘parents are autistic, but not handicapped’ crowd have no explanation for.”

    Only if you claim that all autism results from CNVs.

  4. Laurentius Rex August 20, 2010 at 09:24 #

    What about the extreme sceptics of camp five, who believe that the problem remains with the definition of autism and that genetics alone cannot define what defies definition.

    There also being some clear blue water between those who believe that heredity is responsible for autism since heredity and genetics are not identical.

  5. Lisa Jo August 20, 2010 at 11:33 #

    Kev, I think you’ve done an amazing job of categorizing my perspective – you’re spot on.

    What’s more, I’m beginning to realize that perhaps ANB and I part ways in exactly the way you describe: I’m always looking for the practical implications, while he (and most scientists) reflect the reality that the scientific method and science in general is not about solutions but about slow, careful discovery.

    Maybe it’s a male/female thing? I don’t say that flippantly, but have noticed over the years that men are generally more willing to explore questions for their own sake while women are generally more likely to say “that’s nice, but what can I DO with that information?”

    My question to you is, if I represent a “camp,” do I have any campers? Who besides me would take that particular perspective? (Just wondering if I have some friends out there that I haven’t met yet!)

    BTW, I’m a Capricorn!

    Lisa

    • Sullivan August 20, 2010 at 15:11 #

      Lisa Jo,

      “that’s nice, but what can I DO with that information?”

      I would say that when it comes to medical treatments, the most practical thing to do with an initial discovery *is* to give it further study. Study to insure that the initial result is correct. Study to see if there is a prectical way to use the information. It may seem painfully long, but it is the way to get real answers and it is the most ethical approach.

      As it turns out, I wrote about clinical trials in a piece today.

      In my experience ANB spends a lot of time with people who take the attitude, “That’s nice, but how can I ignore that information?” As in people who seem to be saying: “Here’s a study that shows (again) that vaccines and/or mercury are not causing an epidemic of autism….how can I ignore that?”

  6. Kev August 20, 2010 at 15:40 #

    Lisa Jo – well I wouldn’t necessarily say that people from other ‘camps’ can’t be friends. Look at Harold and I…inseperable!

    Seriously, I think theres a lot of people who take each of the people I’ve mentioned positions on a lot of stuff. And a lot who take one or two. You have a lot of loyal commenters who agree with you as well as debate you.

  7. Lisa Jo August 20, 2010 at 16:18 #

    oh, absolutely, I agree that it’s very possible to cross from camp to camp, and there are times when I’m in one versus another (thereby baffling all around me, I’m afraid…lol!).

    I was really asking whether there was a real “camp” of people who, like myself, believe in the scientific method but find it terribly frustrating to read about the tiny, incremental steps that are a natural part of the careful study of pretty much anything (especially anything biological).

    As to “what can we DO with that info,” to tell the truth, since I’m writing mainly for parents, and I’m writing for the web, I’m always on the lookout for “top tips,” “best of,” “how to,” and similar types of topics. Reality is that the scientific method and writing useful, actionable articles for lay readers on the web aren’t always a great match…

    • Sullivan August 20, 2010 at 17:27 #

      Reality is that the scientific method and writing useful, actionable articles for lay readers on the web aren’t always a great match…

      Granted. However, much depends on your concept of “actionable”. If you consider “doing this or that may be a bad idea” as an action, there is more of a match.

  8. Kev August 20, 2010 at 17:29 #

    Thats true, but I think that – as Sully says – the scientific method is best placed to offer you as a writer who wants a certain sort of article, material to offer you pointers as to rough directions rather than pointers to direct tools.

    I’m sure there are people who find the slow steady pace of science frustrating. Me, for example. Not in terms of cure especially but I’d love to read about a definitive speech therapy method for example.

  9. daedalus2u August 20, 2010 at 18:51 #

    Let me give a plug for camp 6, the “low nitric oxide as the final common pathway for all autism and autism-like disorders” camp.

    But really it should be called camp zero because it does encompass all the other camps as special cases of what causes the low NO that leads to autism and autism-like symptoms (but not the anti-vax camp because there isn’t any data suggesting here is a connection between autism and vaccines).

  10. Do'C August 20, 2010 at 19:45 #

    I’m sure there are people who find the slow steady pace of science frustrating. Me, for example. Not in terms of cure especially but I’d love to read about a definitive speech therapy method for example.

    Hi Kev,

    I saw a presentation about the PACT trial at IMFAR, and Michelle Dawson has written about this parent-child communication methodology testing just recently:

    http://autismcrisis.blogspot.com/2010/08/making-autism-research-history.html

    Perhaps the science is actually beginning to reveal the things you’d love to read about.

  11. Kev August 20, 2010 at 20:06 #

    Uh-huh that was what I was thinking about when I wrote that comment 🙂

Trackbacks/Pingbacks

  1. Tweets that mention Autism Blog - Disturbances in certain genes play a role in autism « Left Brain/Right Brain -- Topsy.com - August 19, 2010

    […] This post was mentioned on Twitter by Kev, johnnyA99. johnnyA99 said: Disturbances in certain genes play a role in autism http://bit.ly/aQoe6F #autism […]

  2. news.google.co.uk: Disturbances in certain genes play a role in autism – Left Brain/Right Brain (blog) - August 25, 2010

    […] Disturbances in certain genes play a role in autismLeft Brain/Right Brain (blog)Essentially it is a negative paper; after genotyping 1300+ families for over 1 million mutations, the paper found one SNP that seemed to be associated with … […]

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