An old acquaintance of mine sent me this interesting piece by economist and mutual fund manager, John Hussman, who has an autistic son and apparently moonlights as a genetic researcher with some other persons. The research involved genome wide sequencing of two different datasets, using a sophisticated computer algorithm that I don't really understand that studied what were called single nucleotide polymorphisms where there are normal variations in the genes of various people some of these can have risk alleles which are genes or a cluster of genes which can cause or predispose someone to conditions like Alzheimer's disease, diabetes, or autism.
From what I understand of the article, they were saying that there are so many possible locations that could result in genes which cause alterations to proteins or instructions on how to construct neurons, etc., it is infeasible to examine them all by conventional methods. However, many of the SNP's that could cause autism might be in very close proximity to one other and the problem could be confounded by a large "noise to signal ratio". The researchers Hussman was associated with apparently used an algorithm which helped with the signal to noise ratio in finding candidate alleles that could cause or predispose someone to autism. Two different data sets, one from the University of Florida and another from the autism genetic resource exchange were used with the idea is that you might be able to find locations for the same candidate genes in two different data sets, then this might make a clearer picture for a possible genetic etiology of autism.
I have written in the past about the simplistic statements that Simon Baron-Cohen and Temple Grandin and perhaps others have taken towards the genetics of autism in that perhaps there is only one or a few "autism genes" that have stayed in the population due to a protective effect and are responsible for every invention from the spear to the cell phone.
As Hussman correctly states, the problem with this thinking is that instead of a few genes, there are probably hundreds of genes that operate in concert with each other which could have a small effect on many individuals or a large effect on a few individuals. But what was intriguing is that these hundreds of genes could operate on a common biological pathway, which might make an understanding of the etiology of autism clearer.
With this computer algorithm, the researchers claim to have found a biologic pathway which could explain at least some aspects of autism. The biologic pathway regulates how axons and dendrites in a neuronal brain cell are formed and guides them to the appropriate places. For those who don't know, brain cells communicate with each other chemically and electronically by sending electrical pulses down what is called the axon of the cell. Then a chemical is released into a space called the synapse which is received by a dendrite of a neighboring brain cell. If something is amiss in genes that regulate this, then cells won't be able to communicate with each other properly and this lack of adequate transmission could cause the debilitating features of autism.
Though admittedly I am far from a science expert, one problem with this research that I see is that autism is likely not 100% genetic, since though we have high concordance rates in identical twins, it is not 100%. Likewise, as I remember correctly some studies have shown fraternal twins have higher concordance rates than siblings who are not twins; it would be the same if autism were 100% genetic. So, there may be something else, besides abnormalities in single nucleotide polymorphisms such as some environment insult during the prenatal period that could cause a person to become autistic, though it is possible this pathway found by Hussman and the others might predispose a person to autism.
I suppose Lorene Amet, a prolific commenter on autism's gadfly who has a doctorate in molecular biology can critique this research and correct me where I am going wrong if anywhere. Or possibly someone else better trained in science than I am.
However, this research holds out hope, maybe not for me personally, but perhaps other persons who have yet to be born. If there is a common pathway influence by genetic mutations that results in abnormal cytoarchitecture can be found for many cases of autism, perhaps interventions could be done to prevent the person from becoming autistic in the first place and having to live with this disability. Hussman seems to imply this is the case.
As I said, I wish I had more expertise on science so I could understand this stuff better and the possible implications it might have for helping or possibly even curing or preventing autism in the first place.