Is Autism Genetic?
From: Dr. Chun Wong
If you have read my previous blog posts, you will know that I do not believe that autism is caused by just one thing but that it is a multifactorial condition which can be caused by a number of factors -so, is genetics one of these factors?
Research Linking Genetic Defects and Autism
There is a significant amount of research out there that links autism spectrum disorders with genetic defects. Here’s what studies have found:
- The work of geneticist Thomas Bourgeron – Bourgeron, a French geneticist, published a study in 2003 that showed that families of several autistic children had mutations in the NLGN3 and NLGN4X genes which led to a complete loss of function in these genes, triggering autism in the children. These two genes are responsible for the manufacture of neuroligin proteins which are needed by the body for the structure of nerve cell contacts.
- Gottingen Study – A study in Gottingen, published in the scientific journal “Neuron” and in Science Daily in September 2006, like Bourgeron’s work, showed that neuroligin proteins are essential for transmitting signals between nerve cell functions and that the brains of genetically altered mice, which did not have neuroligins, did not function properly because the synapses (the contact points at which the nerve cells communicate) never matured. The researchers of this study concluded that autism patients suffer with similar malfunctions due to neuroligin mutations.
- The work of Mark J Daly – Research headed by geneticist Mark J Daly of Massachusetts General Hospital has found that the risk of autism is increased one-hundredfold by “deletions or duplications of a specific small segment of chromosome 16″. The research team found this genetic defect in autistic children but not their parents, which suggests that sometime after fertilization there was spontaneous mutation in the location 16p11.2, a location known as a “genetic hot spot” because it is so susceptible to mutations.
- A defect in the CNTNAP2 gene – Three different research groups all reported in January 2008 (in the American Journal of Human Genetics” that a defective CNTNAP2 gene (also known as contactin-associated protein-like 2) was linked to autism and that it increased the risk of autism by 20% in children who inherited the gene from their mothers, although a mutated gene could be inherited from the father too.
- The work of Eric Morrow and Christopher Walsh – Morrow and Walsh, who led a research team from Harvard University, found that a set of six genes that are linked to brain development in the first year of a baby’s life are abnormal in many children with autism. The researchers also made the breakthrough that these 6 genes were not always completely deleted in children with autism, but that in some cases mutations in the surrounding control regions of the children’s DNA were keeping the genes “switched off”. This was encouraging as it could mean that therapy or medication could be used to activate the genes and allow normal brain development.
- Mitochondrial Disease and Autism – Dr John Shoffner, president of Medical Neurogenetics and an associate professor of biology at Georgia University, completed a “retrospective analysis” of 37 autistic children and found that 65% of them had mitochondrial defects. In other large studies, Shoffner says that 20% of children with autism have been found to “have markers of mitochondrial disease in the blood”.
- Gene mutations in 27 different genetic regions linked to autism – Research by geneticists from The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine and other institutions, found that there are 27 different genetic regions in autistic children where there are missing or extra copies of DNA segments, but that these are not found in healthy children. It is thought that the combination of genetic deletions and duplications interferes with gene function, disrupting the production of the proteins needed for proper brain development.
- US National Institutes of Health Research – A report by BBC News stated that research funded by the US National Institutes of Health found that genetic factors play a strong role in autism and that autism cases could be cut by 15% if one common genetic variant was corrected. The research found that genetic variants of two genes found on chromosome 5 were linked to autism spectrum disorders.
Those are just a few of the studies linking autism to genetics and autism expert Professor Simon Baron-Cohen, from the University of Cambridge, says that autism has now been linked to 133 genes and that further research is needed to understand how these genes interact and also to see how they interact with the environment. In the BBC News report cited above, the UK’s National Autistic Society said:
“There is evidence to suggest that genetic factors are responsible for some forms of autism. However, the difficulty of establishing gene involvement is compounded by the interaction of genes and by their interaction with environmental factors. Various studies over many years have sought to identify candidate genes but so far inconclusively.”
So, genes probably are a factor in some cases of autism but they we should not consider genes in isolation. It could be that genetic abnormalities are making some children susceptible to environmental triggers and that it is a combination of genes and environmental factors that are causing autism spectrum disorders.
But what about the link between autism and autoimmune diseases?
I will be examing that next week.
Further Reading
Gottingen Study – http://www.sciencedaily.com/releases/2006/09/060925143554.htm
Mark J Daly – http://articles.latimes.com/2008/jan/12/science/sci-autism12
Morrow and Walsh – http://www.timesonline.co.uk/tol/news/uk/health/article4311466.ece
Shoffner – http://www.bio-medicine.org/medicine-news-1/Muscle-Weakness-Found-in-Some-Autistic-Children-16649-1/
Gene Mutations in 27 Different Genetic Regions – http://www.sciencedaily.com/releases/2009/06/090625202008.htm
BBC News Report – http://news.bbc.co.uk/2/hi/health/8020837.stm
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@abilene_piper_lg@xanga – That’s pretty rough. I’m guessing that therapy isn’t something you’d ever take into consideration, so I won’t even suggest it. I myself have been through it during my very severe postpartum depression days. I wouldn’t be here if it wasn’t for it. My children and husband mean too much to me to do anything so horrible.
I hope that you eventually find something that gives you a sense of contentment with your life. I feel for those who are so angry at the world, it’s exhausting to be that way. I was angry when my Dad was dx’d with colon cancer and my sister was dying. I couldn’t take the anger anymore, though, it was taking its toll on me and my family. My neighbor, who used to be a friend, has been bitter over the loss of her mom for 8 years now, she has griped about everything from having diabetes to having a mom who died. (Heck, I know a young girl down the street with diabetes, she’s in the 3rd grade. She has never moaned/groaned about it, takes it graciously. And this is an adult, next door, constantly bitching about it.) I realized that she was dragging me down and I severed the friendship. I couldn’t be with someone so negative about everything while I was struggling through the grief after the loss of my sister and trying to cope with my Dad’s cancer.
After breaking off the friendship (it was way too poisonous) I felt so much lighter and was able to begin healing.
I went off tangent there a bit, sorry, I tend to that after lack of sleep!
I hope that you have some sort of support system that you are able to hang onto.
@ManoAngeliukai9902@xanga – I guess there’s a difference. Even at his advanced age he has something to live for, vs. even at my young age, I have nothing to live for. Life is nothing but suffering for me. If I had the guts to kill myself I would…..
@tonsofblessings@xanga – Thanks so much for saying so, I really appreciate that. Sometimes I don’t feel so “tough”! But we have to keep on chugging along, if not for us, for the sake of our kids.
I’ve learned to toughen up a bit over the years, though, I suppose.
My daughter was born with a cleft lip/palate, we knew about it before birth, an ultrasound at 19wks showed it. She was such a beauty at birth, had the most precious little unique smile. She’s now 7, has had 7 surgeries before the age of 5, with the 8th being “just tubes” last Christmastime. Her next surgery will be at age 8, a bone graft will be taken from her hip and placed into her clefted gumline. She’s been a trooper through it all. Naturally, it’s difficult for us, but it’s something that we’ve been dealing with since she was a tiny one — her first surgery was done at age 3 months.
One has to be strong to get through those surgeries!… I guess you’re right… I AM pretty tough!
Yes, you’re right, there is never any reason to give up on life.
@ManoAngeliukai9902@xanga – You are one tough and GREAT mom. Good for you and I totally agree with you…there is no reason to give up on life!!
@abilene_piper_lg@xanga – Actually, he’s perfectly fine.
No handicaps whatsoever. He’s not anemic, nor is he in chronic pain. He didn’t lose hair, not all people do from chemo.
I’m relieved that he’s not one who chose to die rather than go through treatments, there is never a reason to give up on life, not for him. He’s got too much to live for. We already lost my sister in January, that was tragic enough. My parents just happily celebrated their 50th wedding anniversary in June, and we had a huge surprise party for them in July. Celebrating their marriage and my Dad’s health was something we were really looking forward to after my sweet sister passed away.
I have a couple of ongoing health issues going on including something called PMDD. It stands for premenstrual dysphoric dysfunction/disorder, it’s a very debilitating time of month for me. It does actually cause suicidality. However, Yaz had been my lifesaver, it’s the only thing that has helped alleviate the symptoms.
I have hypothyroidism (dx’d in ’88), had a miscarriage, went on to have two children via complicated pgcies. My son and I could have died without the emergency c/section, my daughter then was born via emergency c/section as well, the cord was wrapped around her leg. I went through very severe postpartum depression after her birth, but through therapy and medication, I was finally able to see the light again.
Had uterine polyps and fibroids removed 3 times.
I was wondering what WPW syndrome is, sorry, never heard of it.
My son was dx’d with migraines just a few months ago, so I feel for you with the cluster headaches. My son is only 10 years old, thankfully the meds he’s taking for them have been helpful.
Our credit is blemished as well, so I can empathize. We were victims of identity theft twice in a matter of not even a year and a half. We’ve struggled for a long time now. But we’re coping, somehow. My family means the world to me, and we don’t give up. Cranky isn’t an option for me, LOL, not with two children and a husband.
Good luck to you, I’m sorry for the pain you’re going through.
@ManoAngeliukai9902@xanga – But now what handicaps does he have as a result of treatment? He definitely lost some function. He’ll probably be anemic for the rest of his life, as well as live with some sort of chronic pain. He also probably lost all of his hair and was very weak. I don’t know about you, but I’d rather die than go through treatment for something like that, because treatment will always mean you don’t function as well as you could, hence I would refuse treatment and let such a thing claim my life, because to die is better than to live the rest of your life with loss of function, chronic pain, or a similar condition. BTW, if your dad’s blood pH was 7 or above, he wouldn’t have gotten cancer. If your blood is alkaline, you cannot get cancer. Something doctors don’t want you to know
I suffer from Graves’ Disease, Hypertension, WPW Syndrome, and Cluster Headaches. Anti-thyroid treatments cause more problems than Graves’ Disease does (even though it’s a pain in the ass to deal with), blood pressure meds make me feel like shit (so it’s just something I have to take my chances with), I’ve had two unsuccessful cardiac ablations to try to treat the WPW, and there is no effective way to treat Cluster Headaches, which are the worst pain condition known to human kind, even more painful than natural labor according to female sufferers.
I think if you had all that on top of AS, you’d be pretty bitchy yourself and that I promise you. And when standard treatments they tried on you made you worse instead of better, plus being left with an ungodly amount of medical bills (which the doctors don’t really deserve a dime unless they cure you), and then have to declare a Chapter 7 Title 11, essentially trashing your credit for 10 years, when you had unblemished credit before that, yeah, you’d be pretty cranky too.
@abilene_piper_lg@xanga – My Dad was dx’d with colon cancer last July. Without the radiation and chemo, he wouldn’t be with us today. He underwent chemo, radiation, surgery, and another round of chemo b/c the cancer was found in the lymph nodes. I’m so grateful to his oncologist. As of right before Easter, he was in remission. A colonoscopy last week brought us great news, the cancer is definitely gone.
Without the treatments, we certainly wouldn’t have gotten that happy news.
I’m really sorry that you struggle so much with the concept of western medicine. I for one am grateful to it, there have been many times I needed to rely on my doctors and meds, for myself and my family. You definitely have had some bad experience with a doctor out there, obviously, and for that, I’m sorry. We’ve been very lucky and blessed with some awesome doctors, especially in my daughter’s cleft team. Her surgeon has been the best.
I’ve seen many of your harsh remarks around xanga. Pretty sad to go through life hating on everything and everyone constantly.
@LeeKymKween@xanga – I’m being hostile toward her because she (and several others) stupidly trust everything the FDA, Big Pharma, and Physicians have to say. Western medicine is easily the biggest money-making scam we face today, and it irritates me that people don’t see that. Physicians are overpaid, drugs that just treat symptoms and don’t allow the body to heal themselves are overpriced and designed to actually make you sicker, and the FDA thinks it’s great because they rely on overpaid Physicians and greedy Big Pharma to pad their pocket books because they have invested interest in them.
There’s a reason I refuse medical treatment of any and all forms.
@abilene_piper_lg@xanga – did i miss something that happened in the comments section? Howcome you are being hostile towards her?
yes genetics is a contributing factor…
@SarahAriella@xanga – As well you should question his credentials. Naturopathy, chiropractic and and traditional Chinese medicine is a whole lot of quackery and pseudoscience for one person to buy into.
I have four children. One is fully Autistic and two have Asperger’s Syndrome. My brothers youngest child is severely autistic. I do believe that genetics does play a part in it. I have a hard time believing that four kids in our family having it is a fluke.
genetics is a pretty strong candidate and probably plays a part in some or all cases. There’s a lot more study to be done on it.
I have 9 biological siblings, same parents, all but 2 have biological children. My husband has 1 sibling with 3 children and 6 grandchildren. We are the only ones on both sides with a child with autism. Every symptom on the DSM1V matches up with our boy. With this many siblings you’d think one of them would have had a child with at least ADHD. A neighbor that lived behind us growing up has six children and one of them has a chlid with moderate to severe category autism. It’s all so mysterious.
It could be I spose. My younger brother is autistic, but I don’t consider myself to be in any strong way. But with genes, I guess it’s not as likely for two siblings to have inherited the gene combination in comparison to when you look over a large family and their history. Of course I don’t know the statistics of autism in different countries, so I can’t compare. If there’s a lower percentage of people in some areas, it could be because of that, or a million other things, I guess.
I would lean far more to the genetic link side of things than just about anything else. Both of my parents had Asperger’s-like tendencies, my mother’s sister and my dad’s brother, almost definitely have Asperger’s or HFA, and I have most of the signs of it as well… so does my son, but not my girls. Perhaps the dominant/recessive gene thing plays a bit of a role in it as well. My son got his light hair and blue eyes from his dad, but the autistic like traits from me. My girls got my darker hair and brown eyes, and seem fairly “normal”. Who knows? I got it from both sides… *shrugs* and my sister, brother and I all have some obvious traits, AND my half-sister as well. (My dad’s first daughter who grew up with her mom in another state.)
And I agree with those who question this Dr. Cho’s credentials… he writes like a person pretending to be a doctor.
My brother’s autism was triggered by a gene deletion. My siblings and I all carry the gene deletion and the potential for autism, but the autism is triggered by something else that the gene deletion triggers. I don’t mean that to sound confusing, but I don’t know how to explain it, really.
Can autism be caused by a genetic problem? Probably, but I don’t think that’s all it is. I do, however believe that an autism trigger can be genetic.
@CleetusLiquor@xanga – My family is Mormon. That’s all I have to say about intertwining.
Genetics must definately play a part in the autism spectrum. With the autistic people I know, there are not too many other links than genetics. Maybe it is a recessive gene that needs a trigger, or a genetic response to some environmental trigger, whether it be a vaccine, medication, pollution, additive in something…whatever. I have seen too much data pointing to a genetic link to think otherwise.
@abilene_piper_lg@xanga – “Only inbreeding could produce such bitchy, hateful, spiteful, and above all, completely stupid people such as yourself.”
So, where does your family tree intertwine?
@edlives@xanga – “why the name calling? Is it really necessary?”
Yeah!!
@abilene_piper_lg@xanga – This is not the place for that sort of thing. She didn’t even provoke you or anything!
I used to nanny two boys that had autism..
I have done limited research on it…And it seems like the only thing that makes sense is that it’s a combination of things that cause Autism.. But this Doctor might be on to something…
@SarahAriella@xanga – I never read where he said that, then again, I don’t read anything closely. I know very well what a Breech Presentation is, as I actually have an EMT-B certification (which I’m just going to let expire, and I haven’t done anything like that in over a year).
There really is no such thing as a cure or a treatment, or such is my personal observation. The only thing you can do is allow the body to heal itself, whether you let it do that on its own or you give it some help.
I don’t do much name-calling, but let’s face it, we just don’t get along, never have, and never will. You bring out the worst in my absolute mean side. You bring out my Greg House side, and you aren’t alone. I’ve called a former boss that before to his face, no kidding. Don’t feel so special.
@abilene_piper_lg@xanga -I recognize that each of us has the right to our own opinion shaped by our own experiences. I also recognize that each of us has the freedom to voice our opinions. Perhaps you feel it is your right and responsibility to question everything involving western medicine. I feel it is my right and responsibility to question anyone who tries to sell a cure or treatment, whether that person uses western medicine or alternative medicine.
I question Dr. Chun Wong’s credentials, not to mention the obvious inaccuracies of some of his writing. (Breech is NOT head first). I question my son’s doctors all the time and they do not mind.
This is not the first time you have lowered yourself to name calling. You claim to have an IQ of “160+”. Surely, you see that name calling is immature and counter productive. Isn’t the whole point of this site to exchange ideas, beliefs, information, etc? Since when does progress or understanding come from blind faith or name calling?
@edlives@xanga – Sorry…that woman brings out the worst in me. Seriously.
@abilene_piper_lg@xanga – dude, why the name calling? Is it really necessary?
@SarahAriella@xanga – Oh please. You’re a piece of sub-human trash…not even full human with the way you completely criticize the editors and top contributors of this site. Good lord.
@abilene_piper_lg@xanga – pot…kettle………
@SarahAriella@xanga – “No, we aren’t inbred.”
I highly doubt that. Only inbreeding could produce such bitchy, hateful, spiteful, and above all, completely stupid people such as yourself.
Let’s see…my husband’s youngest brother has Autism, our son has it, and my cousin’s two kids have it. Each was born in a different geographical area, received different vaccines (huge age differences), with parents of different careers and lifestyles. At least as far as my family is concerned…I am going with a very strong genetic link. (No, we aren’t inbred. My husband and I are big on genaology and our trees branch.)
My younger brother is Autistic, and I have very many Autistic habits (don’t like being touched, lack of social skills, extreme dislike of certain textures, etc.). Since Autism is a spectrum disorder, I’ve always thought I was slightly Autistic. My older brother also has Autistic tendencies. So, yes, I’ve thought for a long time that genetics were a factor in Autism.
Do I believe genetics may be a contributing factor? Yes.
Do I believe they are the sole determining factor? No.