A Genetic Clue to Why Autism Affects Boys More
 

Among the many mysteries that befuddle autism researchers: why the disorder affects boys four times more often than girls. But in new findings reported online today by the journal Molecular Psychiatry, researchers say they have found a genetic clue that may help explain the disparity.


The newly discovered autism-risk gene, identified by authors as CACNA1G, is more common in boys than in girls (why that's so is still not clear), and the authors suggest it plays a role in boys' increased risk of the developmental disorder. CACNA1G, which sits on chromosome 17, amid other genes that have been previously linked to autism, is responsible for regulating the flow of calcium into and out of cells. Nerve cells in the brain rely on calcium to become activated, and research suggests that imbalances in the mineral can result in the overstimulation of neural connections and create developmental problems, such as autism and even epilepsy, which is also a common feature of autism. (See six tips for traveling with an autistic child.)


"Our current theories about autism suggest that the disorder is related to overexcitability at nerve endings," says Geri Dawson, chief science officer of Autism Speaks, an advocacy group that provided the genetic data used by the study's authors. "It's interesting to see that the gene they identified appears to modulate excitability of neurons."



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I read something like this in newscience. It was just saying that some researchers believe that some vaccines play a role in it too. Don't know how true that is though.

Because they can't let go of this idea of vaccine link to autism even though it has NEVER been linked by reputable studies.

Autism
 

The latest research has shown no link between vaccines and autism. Some felt that the mercury levels used to preserve vaccines, particularly the MMR (measles, mumps and rubella) vaccine was the culprit.

Although most studies and many reliable scientists reported no relationship, some parents refused to accept the findings. The preservatives now used contain very low levels of mercury, but, if anything, the diagnosis of autism has increased.

It is an enigma wrapped in a mystery. We are fortunate that our son is very high functioning, but it is still heartbreaking to realize he will never marry and have children. He leads a wonderful life filled with love and enjoyment and has so many wonderful, caring people in his life.

I would not trade a nanosecond of his life for a million years of someone else's. What a great, loving son. I don't know why I was selected for the honor of being his mother, but I thank G-d everyday for that.

Paula M
Sigma Delta Tau
Patrae Multi Spes Una
One Hope of Many People

As someone who used to give vaccines several times a day, 5-6 times a week, most vaccines now dont even have mercury in them as a preservative even at low levels. It is correct (atleast as of my resignation last year) that a couple of the vaccines still have mercury in them but the levels are so low coupled with the fact of the age in which they are given, it wouldnt have any effect on the incidence of autism. MMR, for example is not even given until the age of 1 year and the second time at the age of 4. Other vaccines are scheduled in boosters at 2, 4, 6, and 12 months of age with the exception of Hepatitis B which is first given at birth in the state of KY).

I dont think the rise of autism has anything to do with vaccines. I think it has to do with the overwhelming amount of preservatives/chemicals in our foods.

Do you think that it might have nothing to do with anything but being able to diagnose it more accurately and having more advances in "treatment" (by that I mean coping skills and what not) and other diagnostic methods? I'm thinking that it has always existed, but there wasn't a name for it as much knowledge as we have now, so it appears to be on the rise but potentially just wasn't diagnosed.

Ding ding ding...You win a prize!:D

Well I did receive a BS in psychology last weekend, and took a class about Abnormal Psychology of Children and Adolescents where we had a lot of information about autism as Idaho has some excellent programs in their schools for children who have been diagnosed.

I am already using what I learned in college, YAY!

Congratulations on your new degree! I assume that you also learned the difference between association and causation...something that many people don't really get.

there is also some belief that boys are more succeptible to autism (as well as other disorders) given that they only have one copy of each chromosome. if girls have something go wrong with one of their chromosomes, they naturally have a "backup" - boys don't.

You must be talking about the X chromosome because males have the same number of chromosomes as females. So far, however, the genes they are finding associated with autism (not just one disease by the way, this is a spectrum of diseases that all get labeled as autism) have not been on the X chromosome. There are many disease processes that are more common in one sex versus the other that have nothing to do with the X or Y chromosome.

Yep, this is what I read, and what AKA Monet, BigRedBeta and I were discussing last year.

It is not my first degree, but since I was a transfer student I realized I could get another one by taking a couple classes, and if I registered full time then I got scholarship/grant money and it cost less to go to school full time than part time.

I was required to take more than one class on research design and methods. I'm setting up my research for my thesis so I am having a fun time making sure I am being ethical to get my paperwork through the IRB/Human Assurances. Luckily I am not asking about sex, drugs, or rock and roll, nor do I want their names or gender, so it should be approved quickly.

There are lots of different illnesses/conditions etc. that have a higher incidence in one gender over another, say colorblindness or breast cancer, which are being explained by more genetic research. Autism falling into that makes sense. The presentations in my class had a woman (in her 20s) with three boys, all who had autism, but not the same kind of symptoms in each. Really fascinating to see within one family. They didn't all present the same, and I'm pretty sure she has been contacted for research. Watching the three boys in the classroom was a real eye opener.

I think that explains part of it, but I don't think it explains all of it. I suspect there are a variety of factors at work, genetic and environmental. And I've known of enough cases where a change in diet lead to a real improvement that I cannot discount the food aspect that ThetaPrincess24 mentioned for some kids.

I kind of hate to say this, but my experience is that there are more than a few parents of kids on the spectrum who don't completely trust (or who don't trust at all) the medical research establishment. I'm not one of them, but I can sort of see where they are coming from.

I think this may come from a variety of reasons. I know some who still sting from the old theory that withheld maternal love was the culprit. I know some who don't trust research that they think is controlled by pharmaceutical companies. I know some who believe that they saw real changes in their kids that coincided with events like vaccines. (Maybe they did, or maybe it's rationalization, I can't say.) And, sad as it is too say, I know some who've had bad enough experiences with medical doctors who have failed to help (not cure, but just offer compassionate help rather than judgment or "it's not real" reactions) that they've been turned off the "establishment" and just don't trust it.

The reality is that alot of these parents are grasping at straws, looking for any explanation of what happened to their kids and any idea of what can be done about it. Even when I think they're way off base, I can see how they got there.

People want answers. Unfortuntely, medicine doesn't have the answer to everything. I do understand that many don't trust researchers, but the only study that showed a link between vaccines and autism was fraudulent. I think that we will SLOWLY unravel what is going on here....maybe by figuring out the REAL diagnoses. Autism is like Cancer. It's a lumped together diagnosis that can have a zillion different causes, some genetic and some enviromental, as well as a zillion different treatments. Breast Cancer is different than pancreatic cancer or prostate cancer or brain cancer, etc. None of these are caused by the same gene or treated with the same regimen. Right now, there are too few cases to get much meaningful research. What people do need to understand about research is that no matter who is funding it, the people doing the actual research do WANT to figure out what is going on. There is no grand conspiracy to hide the cause of autism so that more kids can be "infected" by continued use of vaccines.
My main argument against just letting parents continue blaming vaccines is that it takes the focus away from finding out what is really behind this disorder.

Well, based on what the OP is discussing, the variant CACNAG1 was done by screening 2000 families on an autism chip--basically a huge fishing experiment and might be a calcium ionophore. By the time they get the sequence they can make the genetically modified rodent model and do series of animal tests, like Barnes-Maze and Modified Water Maze, and make some determinations...

I suspect you have some epigenetic phenomena going on moreso in Autism because it is a cross-genetic spectrum disease, rather mono-genetic.

Calcium dysregulation is common in most mental illnesses and neurological illnesses. Last year in Science, they showed there was some effects with Bipolar on the regulation of calcium. However, calcium flux is so transient and removal of stores are under a steady state condition, actual detection of changes are not observed until there is pathology--i.e. that seen in muscle, including cardiac.

Adding EGTA or Thapsigargin in either a cell-based assay or rodent model through osmotic pump, might prove interesting... Functional changes to this gene to vary the variant, may show that either binding to Ca+2 has changed.

But, it looks like in neurons, you are pretty much taking about neural synapses, I guess some form of mitos might be there? IDK? I would have a better understanding if it was SER and muscle.

I hadnt thought of that but thinking back on other illnesses, I think this as a potential reason is quite valid!

AOII Angel, what you've said mirrors almost exactly how I -- with no medical credentials other than a brother who is an MD :D -- have looked at. I agree completely.

I tend to the think of it as a "perfect storm" scenario. My hunch is that there are genetic factors that make a person more likely to end up on the spectrum. Throw in the right combination of environmental factors early in life and the genetic factors are triggered. But with something as varied as autism, I don't think it's going to be one set of genetic factors or one set of environmental factors -- like your cancer comparison, I think it's much more compicated and varied than that.

I think that, as someone who, by virtue of my own family situation, interacts with more parents of kids on the spectrum than the average person might, I was just trying to reflect what I observe about why some parents hold onto the vaccine idea so strongly or are distrustful of what they might call the "establishment." Like I said, I don't agree with them, and I don't see what good is being done by their attitudes, but I can see how they got there. That's all.

Both of these are largely in line with what I've heard from a family member who has a couple of decades of experience working with kids on the spectrum. The vaccination talk, at the end of the day, takes away from research that might actually help find some answers.

ETA: These days you have more experts on autism, more tools (like IEPs) that allow early identification and avoid lumping those on the spectrum with others who have more general learning/developmental disabilities, and in some districts, more of a support system in place to help parents. I think all of those factors help to explain why there are more cases being recognized.

And it leads to kids not getting vaccinated for some pretty serious illnesses.

Yeah, there's that as well...not sure how I forgot that aspect of it.

Wow, I have no idea what you're talking about, but I feel very smart just reading it.