Friday, June 11, 2010

Large-Scale Autism Study Reveals Disorder's Genetic Complexity

Scientific American reports Large-Scale Autism Study Reveals Disorder's Genetic Complexity.

"The vast array of behaviors that are seen in autism spectrum disorder seems to cover an even deeper range of genetic complexity just below the surface. And the largest genetic study of autistic children and their parents to date has located a host of new variations in autistic individuals.

By studying rare 'copy number variations,' which are individual errant insertions or deletions of DNA segments (each of which occur in less than one percent of the population), researchers discovered a new cluster of genes that are affected in some autistic individuals as well as a number of mutations that were present in autistic children but not their parents."

"Results from the analysis confirmed previous findings of some copy number variants already associated with autism, but they also found a host of other genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome–linked DDX53-PTCHD1 locus) in which mutations seem to be linked to autism. The group also discovered that 5.7 percent of autistic children's variations were not present in either of their parents' DNA, suggesting that these copy errors stemmed from mutations in the egg and/or sperm."

1 comment:

Michael Critz said...

I wonder what the anti-vaccination movement has to say about this. I can wager a guess.