Autism Linked To Absence of a Cluster of Genes

Dr Wigler suggested the missing cluster is a 27-gene grouping on chromosome 16.

Most people have two sets of the cluster – individuals with autism have only one, or just fragments of the second, the researchers say.

Now Dr Wigler’s colleague, Alea Mills, has found the deleted gene cluster not only plays a role in the condition but also may affect head-size, certain behaviours and the shape of structures within the brain itself.

She still has to definitively prove the missing sequence has a hand in causing the condition.

Read more.

Your Thoughts?

About Daniel Fincke

Dr. Daniel Fincke  has his PhD in philosophy from Fordham University and spent 11 years teaching in college classrooms. He wrote his dissertation on Ethics and the philosophy of Friedrich Nietzsche. On Camels With Hammers, the careful philosophy blog he writes for a popular audience, Dan argues for atheism and develops a humanistic ethical theory he calls “Empowerment Ethics”. Dan also teaches affordable, non-matriculated, video-conferencing philosophy classes on ethics, Nietzsche, historical philosophy, and philosophy for atheists that anyone around the world can sign up for. (You can learn more about Dan’s online classes here.) Dan is an APPA  (American Philosophical Practitioners Association) certified philosophical counselor who offers philosophical advice services to help people work through the philosophical aspects of their practical problems or to work out their views on philosophical issues. (You can read examples of Dan’s advice here.) Through his blogging, his online teaching, and his philosophical advice services each, Dan specializes in helping people who have recently left a religious tradition work out their constructive answers to questions of ethics, metaphysics, the meaning of life, etc. as part of their process of radical worldview change.

  • Xeonneo

    What are the chances that some parents will blame vaccines or toxens for the gene deletions?

    • cnjnrs

      100%…even if it were to turn out that this gene cluster is not related to autism at all.

  • WMDKitty

    Wait until Generation Rescue or Age of Autism gets hold of this…

    *makes popcorn*

  • Jason Thibeault

    It’s all that thimerosal that isn’t in vaccines any more that’s hunting through every single cell in your body and destroying that cluster of genes. Jenny McCarthy’s mommy-sense can’t possibly be wrong.

    • Aliasalpha

      Perhaps Jenny McCarthy causes gene damage!

    • F

      I think you may be correct. She certainly causes brain damage.

  • Stormageddon

    Here’s a link to the actual study (Abstract only, it’s behind a PNAS paywall):

    Wish I’d seen it yesterday. Had a 10 minute conversation with a woman who was urging her friend to not vaccinate her kids because of the Mercury.

    Seriously, Fuck Jenny McCarthy.

  • San Ban

    It’s certainly interesting, and seems to agree with the majority of studies that point to a genetic factor, but they’ve a long way to go to show causation, and even further for a test and cure.

    Meanwhile, there’s much work to do convincing parents to vaccinate their kids, autistic or not, so their and everyone else’s kids can grow up free from the devastating effects of these already conquered diseases.

  • jakc

    How does this relate to autism as a spectrum of disorders? Was the researcher able to find some correlation between the amount of damaged/missing genetic material and the severity of the disease? Perhaps it’s too early to ask that question, but without such a correlation, aren’t we still looking for environmental factors?

  • The Vicar

    On the one hand, this is good news — if this turns out to be true, then maybe an effective treatment for autism can be devised.

    On the other hand, though, I worry a little about this sort of discovery. Any time a trait is definitely linked to genetics, it means that there is potentially a test for that trait in a fetus — which means that people can in theory abort selectively to avoid having children with that trait, whatever it may be, particularly if there’s a stigma against it. (Look at Down syndrome, for example.) This in turn reinforces the stigma, which is bad news for the people with that trait.

    (Not trying to be a concern troll or suggest that this discovery — if true — is a bad thing. If it’s true, finding out about it is definitely a necessary first step towards truly effective treatment, which is unquestionably good.)

    • San Ban

      How about if an in utero test leads to early (even in utero) treatment, or even cure? Would that still be problematic? With that kind of thinking, we’d see vaccines as problematic because they may prevent diseases like polio, and so perpetuate the stigma against polio-disabled people.

    • The Vicar

      The problem is that “we have identified a prerequisite for this condition” is not at all the same thing as “we have found a treatment for this condition”, let alone “we have found a cure for this condition and it is still affordable if you’re un- or under-insured”. There are diseases which are genetically identifiable but not really curable — Huntington’s Disease and Down Syndrome, for example — so it is at least plausible (and my uneducated guess is “probable”) that Autism will be untreatable for a while even if this discovery definitely links it to these genes.

      (Heck, although there are all kinds of researchers working on elaborate treatments like engineered retroviruses, we really don’t have any reliable nonexperimental treatments for genetic disorders which actually fix the genetic causes; we can only treat the symptoms. Even if there’s a breakthrough tomorrow and someone figures out how to, say, snip off the chain of repetitions which cause Huntington’s Disease, that does not necessarily easily translate into a treatment for Autism — even assuming this discovery is true and invariable and relatively simple.)

      The chances are good, in other words, that this will be an early warning and not much else, and the only practical step which parents can take is to abort the fetus. Which will of course happen in that case, as sure as eggs is eggs. Such would be a bit demeaning to all the Autistic people out there — and their parents, yes?

  • WMDKitty

    @The Vicar (#7)

    You raise a disturbing point.

    I mean, if it’s a genetic condition that means the kid’s only gonna live for two years, most of that in a persistent vegetative state, or most of that in excruciating pain, I think, yeah, go ahead, abort. But if you’re aborting because a disabled child is “inconvenient”… well, I may not understand the reasoning, but I’ll still support the choice.

    A lot of times, especially with preemies (and particularly in the early 80′s), the doctors will give the parents the worst-case prognosis. My parents were told that I would never walk, talk, sit up on my own, or feed myself. Part of that is… every case of cerebral palsy is unique, no two are exactly alike. Some of us are very profoundly disabled. Some of us are very mildly affected. Most of us are somewhere in between.

    Anyway, despite dire predictions, here I am, living a mostly-normal, mostly-self-sufficient life. Yeah, I need some special accommodations for the wheelchair, and some extra equipment in the bathroom and shower, but I’ve learned to adapt. I’ve also developed a knack for MacGyvering adaptive devices together out of household objects and some crazy DIY repairs.

    Autism is kinda the same way, in that no two people on the spectrum are affected exactly the same way.

    Aborting because the child might be severely affected (but might not be, you don’t know for a few years anyway) is… at least to me, it’s unethical. But I can understand why one might make that choice.

    And… adoption is always an option, though the sad truth is that far too many kids just end up going from foster home to foster home and never finding a forever family. Why? Because they’re “too old” (and thus “not cute”), they’re disabled or drug addicted (and thus “not perfect”/”troubled”/”too much work”), or they’re a racial minority or mixed-race. Too many couples just want a perfect, healthy Caucasian baby. And too many couples who adopt “imperfect”, disabled, or ethnic children are going overseas to do so, completely ignoring the domestic children who’re waiting and hoping for a forever family.

    Um. Whoa. Okay, I kinda ended up ranting, there. I’m just going to, um, shut up, now.

    I’m not entirely sure where I was going with that, but I hope I got a few people thinking.

  • Stevarious

    I don’t have a problem with people getting abortions for no other reason than ‘i don’t want a baby’. I’m not trying to be a troll here, I just want to ask a genuine question. Why is it okay to say ‘I want an abortion because I don’t want a baby right now’ but unethical to say ‘I don’t want THIS baby’? Why is it wrong to get an abortion for a specific reason when it’s okay to get an abortion for no reason at all?

  • Johnny Vector

    Stevarious, it’s a problem to have an abortion because “I don’t want this baby” if it becomes a fashion and causes a noticeable distortion in an otherwise stable distribution of human subtypes. E.g. “I don’t want a girl” leading to an excess of males. A large fraction of whom are thus screwed (in the sense of “not getting screwed”).

    Course, given the fraction of people who are autistic, in this particular case I don’t see it being a big issue.

    • Anat

      Surely somewhere someone would realize that if the sex ratio is seriously skewed one way there is an advantage to have a child of the less preferred sex in that particular society? I expect such problems to be self-correcting in the long run.

  • cnjnrs

    @Johnny et al: I can see how that might cause practical problems (in the case of gender, at least), but I don’t see how it could be unethical. What if, for instance, there were a recessive gene for some disease, and people who carried that gene could choose to use birth control to avoid becoming pregnant at all, because they want to decrease the frequency of this particular genetic disease? That is certainly not unethical. If the pregnancy is prevented after conception instead of before, this is no different (unless you are arguing that a fetus is a human with a right to life, in which case all abortion is as unethical as murder).

    As another example, were this particular abortion unethical, it seems like it would also be unethical to go to a sperm bank and select a father while taking into account whether that father has autism or not. For that matter, what about deciding on an actual husband+father? Perhaps people should not be allowed to take autism into account when deciding who to marry and have children with. Favoring marrying someone without autism causes a noticeable distortion in the distribution of human subtypes.

  • Johnny Vector

    cnjnrs, I consider “causing practical problems” more or less equivalent to “unethical”. Doing your part to create a world that dooms 10% of the male population to never finding a mate is unethical.

    As for your final sentence, I guess it depends on the definition of “noticeable”. What’s the current estimate, about 1 in 160 children are on the autism spectrum? Assuming a genetic test that could only tell you your child would be on the spectrum, and that half of people would therefore abort the child, would mean a maximum change of 0.3% in the distribution. That’s not what I meant by noticeable. Especially since that change makes no difference in the happiness of those born.

    So maybe I should clarify what I mean for ethicality (and yes, I’m clarifying in my own mind as well as on the page here): It’s unethical if by choosing to abort (or not get pregnant with) a given child, you are contributing to a world that is worse for the children who are born. I agree it makes no difference whether the choice is made before or after the child is conceived. And I aver that creating a world with fewer autistics (or fewer Down syndrome, or profoundly deaf, or blue-eyed, or a million other such choices) does not create a world that is worse for the people who are born. Creating a world with a significant gender imbalance does. So choosing to abort based on gender is unethical; choosing to abort based on genetic disorders is in most cases not. And the exceptions would be based on the concept of whether you’re actually (not hypothetically) making life worse for the children who are born.

    I think that’s what you were actually saying. If so, we’re just going to have to agree to agree.

    • cnjnrs

      First, I disagree about “causing practical problems” = “unethical”. This is both too utilitarian and relativistic for me. So I think that while we agree in some sense, it’s for the wrong reasons. ;) I am glad (if surprised) that you agree that it makes no difference whether the decision is before or after conception. But…

      My main point is that having a child is a difficult and personal decision that can and should take into account many factors. So I find it hard to believe that deciding to avoid having a child by using birth control could ever be inherently unethical. Even if people are making that decision for a “bad” reason, it’s still their right to decide not to have a child.

      If the problem is that people are misogynist and so would prefer boys, that is obviously huge problem, but I’m not convinced that makes for unethical decisions about whether to have a particular child. Even if I agreed about the utilitarianism, and if it were clear that 50/50 gender split were important, I see no reason people couldn’t pick their child’s gender, provided the ratio happened to remain about 50/50.

  • =8)-DX

    Not trying to.. well make too much of it.. But I’d be really interested to see what kind of evolutionary pathways different parts of that gene-cluster have, or in relation to other factors.

    Were our pre-human ancestors more autistic? Were there some empathy or social-behaviour modifications that had to evolve alongside increased brain-size, etc?

    I want the comparison with chimp dna! =)

    (One moderately intrigued reader, ready to learn more!)

  • unbound

    I think it has been well established that Autism is genetic (my youngest has Asperger’s – basically high functioning Autism – which he got from me) regardless of what the vaccine-scared whackos may want to believe.

    In regards to whether they have identified the correct part of the genetic code, I would need to see more information behind the claims. They said they have found a cluster which is associated with Autism. But have they found it consistently (i.e. 100% of the time), or is this like the dietary studies where something silly like 30% of Autistic people have this issue compared to 15% of non-Autistic people (therefore, your “risk” is double)…in which case, I will ignore this just like most dietary studies.

    Unfortunately, the article linked in the post doesn’t offer this critical (to me at least) piece of information, and I can’t find sufficient detailed articles yet without coughing up some money. Oh well…

  • One Brow

    If there were a single, simple genetic cause, autism spectrum disorders would be apparent in the parents of autisitc children. I find it very unlikely that I and my wife have two chromosomes with those 27 genes, yet I have two children missing them out of five (one with Aspberger’s, one with PDD-NOS). I find it much more likely that this is one of eight or ten genetic markers, certain combinations of which cause autism.

    • Anat

      One Brow, have your children been tested for those genetic deletions or are you assuming they have them based on their diagnoses wrt autism? Because there are many genomic regions that have been associated with autism over the last few years. In some cases the connection between the genetic variation and the condition is somewhat understood, in others even less so. Your children’s brain differences may have been caused by any of those or even some completely different genes that have yet to be associated with autism spectrum disorders.

    • One Brow

      I think you just agreed with what I said.

  • Jeanne

    VERY interesting…I’ll be interested in the outcome of this testing. I mean let’s look at some other things BESIDES the vaccines or toxins. All I’m saying is let’s not get stuck in one place, round and round. Let’s continue to figure out the possible cause.

  • Erica

    There are literally millions of parents who choose to carry fetuses to term after getting results of neural tube defects. Tests for Down Syndrome, Spina Bifida, a whole host of more chromosomal disorders are offered in the second trimester. Practicality is far from the only reason to terminate for medical issues.