Study finds gene expression differences in autistics

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Researchers used genomic profiling to look at differences in autistic children and found "11 specific genes with expression levels that were significantly higher in the blood of children with autism when compared to the blood of typically developing children."

“Those 11 genes are all known to be expressed by natural-killer cells, which are cells in the immune system necessary for mounting a defense against infected cells. We were surprised by our results because we were not looking for these particular genes. And while a number of studies have shown immune system dysregulation to be an important factor in autism, ours is one of the first to implicate these particular cells.”

“If the natural-killer cells are dysfunctional, this might mean that they cannot rid a pregnant mother, fetus or newborn of an infection, which could contribute to autism.”

http://www.autismvox.com/natural-killer ... or-autism/

I'm really interested in this article because I have CFS and natural killer cells are implicated in that disease also. A recent study in CFS found that those with abnormal natural killer cell activity had "less vigor, more daytime dysfunction, and more cognitive impairment." Another study found the same infections in autism that are found in CFS which may be due to these genes reducing the natural killer cells ability to fight infections. It may explain why some become autistic after the DPT and MMR vaccines. The combination of three viruses in these vaccines may overwhelm a genetically weak immune system. More research is needed, but I think it's likely that a genetic susceptibility leads to the environmental factors that cause autism.

Interesting.

It's the most exciting study I've read so far this year because it relates to the other condition I have.

This is very interesting indeed! I'm not sure what the implications are, though. It seems like any test for this would probably have a high rate of false positives since there are so many factors (whether the cells are actually dysfunctional, whether an infection occurs that might play a role, etc.). But I didn't read through the whole study. How frequently do these 11 genetic differences occur in the control group (the NTs)?
And is this likely to lead to new treatment options? What sort of treatments are used for conditions associated with these cells?

skimmed it & it's they think research wurdbendur, means they got no clue, just more thinking, more testing needs done.

Our family participated as part of a nation-wide blood testing program that examined something like a dozen or two different specific blood factors. This was before 2002, if memory serves. Our family was selected because we have two diagnosed autistic children, one profound and one high functioning, and they were looking for families with more than one for this testing program. All of us were tested, my wife and I and our three children. We'd literally forgotten about things, it took so long for a report to come back (more than a year and a half, I think), but we finally got this letter from them detailing the specific factors found and evaluating (weighting) them according to those same factors found not just in this study but also in other studies performed only on people with diagnosed autism. They listed the specific factors of interest found in each of us (we all had something, apparently, that was a marker of interest of some kind, but most of us had several) My profoundly autistic daughter had the 2nd highest probability calculation in our family, with odds estimated at some 20 times more likely than the general population to exhibit autism (of course, in her case, she was profoundly so.) What struck me was that I had the highest odds, though, with sufficient combined factors to place me at 87-times more likely than average to be autistic according to the report. So that made me feel a bit guilty about contributing to the odds in our family's case. I suppose I could dig up the paperwork and the specific blood factors they looked at and compare it with this study mentioned here, but I don't have the time just yet. The only reason I'm writing now is that this study reminds me a little of the one we participated in. Makes me curious to go to the library and see about digging up all the published studies of this kind and see where they are going with all this.

Jon

this is old but we have the same thing.
2 children with different levels of autism
i contributed to the odds.
XH's family also has autism in every 'nucleus' of the family and extended family

it was inescapable.

The genetic architecture of risk for autism spectrum disorder

There's both inherited genes *and* de novo mutations involved in severe autism, it seems. Possibly the mutation adds to the existing autism to make it more severe, and those without such will be 'high functioning'? Consider also that alleles for autism risk overlap significantly with alleles for high IQ. But of course environmental factors can ret*d IQ. Maybe some people get autism alleles + environmental insults which affects how their autism develops.

With these studies, what do they mean by 'autistic'? It's almost certainly not monocausal.

Cause nothing is monocausal?

So, imo, people should not focus so much on trying to find only a genetic explanation. Genetics is part of it, of course, but it is very odd that autistic and also other people, many of whom supposedly have a very high intelligence, or at least smartness, (and I know for a fact some do) are focusing so much in such a lopsided way. Bizarre, but kind of fascinating. Imo it is necessary to see the glitch and then factor the glitch (or disconnection place) into the mode of data processing in order to be able surmount the glitch.

Quote from the article you linked to:

"In this article I describe and evaluate the hypothesis that a substantial proportion of “autism risk” is underlain by high, but more or less imbalanced, components of intelligence."

Imo, totally ridiculous comment and not worth hypothesizing about. Where could anyone go with this in terms of ever helping anyone? I think it is not so difficult to see that such weird speculation can only lead to further chaos and dysfunction. To me it's like a person drunk not on alcohol but on genetics (pro bably a very special and even fanatical special interest hising under the mask of so called science is playing with idea content in a very lopsided Of course maybe it is I who am silly, though unlikely in this instance, but am always open to correction.

Anyway-ee, Magenta wrote:

"Possibly the mutation adds to the existing autism to make it more severe, and those without such will be 'high functioning'?"

Yeah, sure, ha ha. You seem to be saying there is no way to make sense of this person's theory, but maybe this is a misinterpretation on my part. Not to criticize your message, which I find to be very helpful and interesting.

From Google:

"Search Results
Featured snippet from the web
Image result for what is genetic phenotype
Genotype and phenotype are very similar-sounding words that are related, but actually mean different things. The genotype is the set of genes in our DNA which is responsible for a particular trait. The phenotype is the physical expression, or characteristics, of that trait."

And also: Re what is de novo mutation:

"A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo variant, new mutation, and new variant."

What theory? That was a comment on the finding that both inherited alleles *and* de novo mutations were linked to autism. That isn't a *theory*, that's a *finding*. I was *conjecturing*, based on that, that de novo mutations might affect the 'severity' of the autism, without being the cause of the autism itself. Now that would be disproved, of course, if it turns out there are a lot people who have those mutations whilst also having a low polygenic risk score when it comes to *inherited* alleles.

NOThing u guys said makes any sense to a simpleton such as me!

I took Genetics in college!! !

Anyway I would love to someday find out what my specific genetic differences are that gave me my confusing behavioral phenotype! Any good studies? Not horrible studies, I tried participating in research studies before at UofM and they were unpleasant lol!