Genetic Mutations and Autism: New Research Findings
Thursday July 10, 2008
Science Daily and various other publications just announced a "breakthrough" finding regarding genetics and autism. By studying middle eastern families in which cousins married cousins, researchers were able to zero in on genetic issues relative to autism. According to the article:
"The emerging picture of the genetics of autism is quite surprising. There appear to be many separate mutations involved, with each family having a different genetic cause," explained NIMH Director Thomas R. Insel, M.D. "The one unifying observation from this new report is that all of the relevant mutations could disrupt the formation of vital neural connections during a critical period when experience is shaping the developing brain."The takeaway message from this new finding is generally positive:
...in most cases, what was lost was a region adjacent to the gene that contains its "on/off" switches. This has important implications for therapy, because it suggests that autism mutations don't always remove a gene altogether, but only inhibit its activity in certain contexts, says Eric Morrow, MD, PhD, of Massachusetts General Hospital, who is co-first author of the paper with Seung-Yun Yoo, PhD. "This means that we would not need to replace the gene, if we could only figure out how to reactivate it, perhaps with medications,"
Comments
They have found 6 new genes witin this study, which is quite interesting. We have autism- like symptom’s on both sides of my son’s parents, only a few have died and wouldn’t had been diagnosed during the era they lived plus my sons dad is the only other person I’ve ever seen do the same odd things my own child does.
I hope they can figure out that ‘on’ switch but at the same time, there could be prevention. They are coming very close these days in research for at least knowing why autism occurs.
In the case of non-familial autism I think the genes mutated are always individual because this type of autism is often caused by older paternal age and the sperm DNA mutates in different genes and in different ways. http://www.news.com.au/heraldsun/story/0,21985,23849196-5000117,00.html
http://www.sciam.com/article.cfm?id=fact-or-fiction-men-have-biological-clocks
I think this is very exciting news. I pray this is the key.
You will find a plethora of research being published in the near future (meaning the next five years) that will flesh out what other genes may be responsible for autism. A few years ago, only 5% of the genes were accounted for. Now we are at 15%. I predict that we will see 25% to 35% of all cases being accounted for within 5 years.
Further, the habit doctors have of over-diagnosing autism and Asperger Syndrome will come to a halt in light of genetic tests being formed which can verify or dispute their diagnoses. Doctors who falsely diagnose without confirming through genetic testing could risk being sued for malpractice.
“Quirky” behavior, that was previously defined as being Asperger Syndrom-ish will simply be labeled as being quirky.
Anti-social smart kids will once again be called “gifted” kids with social phobias or anxiety issues.
Autism will then be re-defined according to genetic criteria. Once this happens, all “treatments” and “cures” in existence for autistics will be rendered “quack.” And scientists can work on various gene therapies to counter the effects of autism in those who are more severely affected.
Autism is a “customizable” disorder, which means that the genes which cause autism may be different in each individual with only a few core genes being shared by all. Thus the majority of autistics may find some benefit from genetic therapies, but it is doubtful that autism can be eliminated.
Hopefully parents and the rest of society will come to accept this fact and come to accept autistics because of this.
Does this mean that there wiil be a genetic test to determine wether or not a couple will have an Autistic child or not? And if the answer is yes that would determine wether or not they have other children. As a side question which maybe far reaching. I think I read somewhere that one of the traits of Autistic children is walking on there toes? I have seen many adults walking on the street that rock onto there toes when they walk. Hey it maybe a dumb question but I have been told there is no question that is dumb.
We took our daughter to see a foot doctor today because she walks on her toes. The doctor mentioned that he thinks it is caused by her autism. He examined her feet and knees. There is nothing seriously wrong with her. The physical therapist stated that it happens sometimes because if a child does not crawl or only crawls for a short period of time before walking certain muscles don’t develop properly and that causes the walking on toes. She has us doing stretching exercises with our daughter as well as playing games with her that will make her crawl. We are hoping this works.
Of one more thing. The child phychiatrist we are taking her to has asked us to take her to a genetic doctor, which we are doing in Sept. I will see if he/she knows of these new findings.
I don’t want to say “I told you so”, but this fits in perfectly with a comment I left back on April 14 of this year. I discussed that Autism looks a LOT like an epigenetic change. Epigenetics is the “on”/”off” language encoded on our DNA. It is just as important as the genes themselves because it determines which genes are “expressed” and which are “suppressed”.
These “on”/”off” switches can be “flipped” by environmental exposures. Smoking, diet, toxic chemical all affect our epigenome. And the epigenetic effects are incorporated into our sperm / eggs and thereby are passed down to successive generations.
There was a landmark study about the very significant effects of the Irish potato famine on successive generations of Irish people who were born long after the famine was over and who were not themselves subjected to any malnutrition. Depending on how old their grandparents or great-grandparents were in the famine (pre- or post-pubescent), the effect on the second and third generation either extended or shortened their lifespans markedly.
I’m sorry, but I cannot recall the citation to the study. You can probably Google it though. It was the subject of a PBS “Nova” episode, too.
Anyway, like I said… this is what I posted back on April 14 on this very blog…
…One idea I have is that [the cause of Autism in our children is] going to turn out to be immunizations after all. Not necessarily the ones received by our children — but those we received and those our parents and grandparents received.
Our parents’ and grandparents’ immunizations could certainly have affected their epigenomes, causing each successive generation to inherit a greater susceptibility to immune system problems and mitochondrial problems.
I note that allergies, like hay fever, peanut allergies, etc., all seemed to come out of nowhere in the 60s-70s. Asthma seemed to spike in the second wave, throughout the 70s and 80s. Now Autism is the third wave in the 90s-00s. [this would make sense if the cause were EPIGENETIC].
Most parents with autistic kids note that their child with autism [also] has eczema, food sensitivities, asthma, G.I. issues, and that sort of thing.
So I think that’s going to be the ultimate connection. Maybe the whole “mitochondrial” issue is the mechanism (or one of many) which is behind the immune system failure. And very likely the [overuse] of antibiotics or too many immunizations is the trigger [for the epigenetic changes].
Bob
Comment by Bob — April 14, 2008 @ 9:09 pm
Bill asked:
“Does this mean that there wiil be a genetic test to determine wether or not a couple will have an Autistic child or not?”
Such a test would only be able to tell whether or not a child has autistic genes. It would not be able to tell whether or not the child would develop autism.
“And if the answer is yes that would determine wether or not they have other children.”
I am sure some parents would choose to abort.
I was reflecting that invitro-fertilization is 30 years old. Some parents will go to great lengths to have their own kids. meanwhile, orphaned kids get rejected, and kids that may present with potential health problems get aborted.
The drive to have one’s own child is strong er than the drive to have A child. The drive to have a healthy child seems to compell a lot to abort for fear a child will turn out to be unhealthy.
“As a side question which maybe far reaching. I think I read somewhere that one of the traits of Autistic children is walking on there toes?”
It’s not. there is nothing in the ICD-10 or DSM IV TR about walking on ones toes as being a defining trait of autism.
Ref: Thomas D. Taylor,
Good point. You’re right that the DSM-IV doesn’t say anything about toe-walking. It also doesn’t say anything about eczema, digestive problems, larger-than-average cranium size, insomnia, food sensitivities, and other things that most parents of autistic kids would report (some or all).
Lisa Jo has discussed this many times. So maybe it’s high time to update the DSM-IV to more accurately capture the entire constellation of symptoms - -not just the neurological/behavioral ones.
-Bob
I have seen this about the chelation treatment on other blogs then the question becomes where does all this heavy metals come and how does it get into all of these childern. If any one has a idea i would to hear it.
The above symptoms listed can be of any child, not just those with autism. Because these things can occur for any child, they are always considered different medical issues than related to another like autism.
Adding to the DSM-IV eczema, digestive problems,sleep disorder’s, cranium size which all could have a cause to it’s own, and of which I know many children with these things and do not have autism, would only create a panic for parents. Toe walking could also be of a different medical cause than a sign of autism.
My child never crawled, he did this scoot thing. He didn’t walk until he was 15 mths old and was never a toe walker however many toddlers do start out toe walkers as they’re learning to walk. My son does have gut issues, but it’s also a genetic thing which others in the family also have, so it’s not related to autism.