New Genetic Associations for Autism
Kristina Chew at Autism Vox has written up an excellent summary of the latest results to come out on autism genetics. Over 1,200 families worldwide participated in the study of SNPs which found an association between autism and a region on chromosome 11 as well as the neurexin 1 gene.
One of Kristina’s readers, laurentius-rex, left a particularly insightful comment:
Looking at it so far more than one group of researchers have located a lot of different “possible” genes, no-one has anything definate and I am not sure if all these teams agree.
I don’t know who is keeping records of all this but I bet if you put the lot of it together in a chart it is looking very messy and confused with claim, counter claim, and contradiction.
The idea of anyone claiming that a drug could rectify whatever the gene got wrong is horrendous.
I do not doubt that you just can’t fix things so simply and there would likely be huge side effects not even thought of. Flowers for Algernon anyone.
Given the complexity of the genome, there is no doubt that a number of different genes and environmental factors play a role in the etiology of autism spectrum disorders. And, I don’t think anyone believes there’s a magic elixir that will “cure” someone of autism and make him/her “normal.” What genetic researchers are hoping to do is to understand how the brain functions and how it sometimes differs from the standard. Perhaps a little tweaking here and there could make an autistic person’s life just a little easier.
Tags: autism, autism spectrum disorders, autistic, genetics, genes, genome, dna, diseases, illness, health
Thanks to Epigenetics News, I was alerted that mutations in the MECP2 gene on the X chromosome cause have been found to cause autism. Mutations in the MECP2 gene were traditionally associated with Rett Syndrome. Shortly following, we received a sample from a patient diagnosed with austism, and sure enough she had a large mutation in one of her MECP2 genes.
A cause for hope is that symptoms caused by mutations in the MECP2 gene have been *reversed* in mice. I am hopeful that there may be a cure for Rett syndrome and MECP2 related autism on the horizon.
Rebecca: Interesting. It does seem as if the list of mutations associated with each complex disease only grows with “cures” and treatments remaining unattainable. Soon, I hope. Soon!