Autism Associated With Single-letter Change In Genetic Code

ScienceDaily (Oct. 7, 2009) — In one of the first studies of its kind, an international team of researchers has uncovered a single-letter change in the genetic code that is associated with autism. The finding, published in the journal Nature, implicates a neuronal gene not previously tied to the disorder and more broadly, underscores a role for common DNA variation. In addition, the new research highlights two other regions of the genome, which are likely to contain rare genetic differences that may also influence autism risk.

"These discoveries are an important step forward, but just one of many that are needed to fully dissect the complex genetics of this disorder, " said Mark Daly, one of the study's senior authors, a senior associate member at the Broad Institute of Harvard and MIT and an associate professor at the Center for Human Genetic Research at Massachusetts General Hospital (MGH). "The genomic regions we've identified help shed additional light on the biology of autism and point to areas that should be prioritized for further study."

"The biggest challenge to finding the genes that contribute to autism is having a large and well studied group of patients and their family members, both for primary discovery of genes and to test and verify the discovery candidates," said Aravinda Chakravarti, professor of medicine, pediatrics and molecular biology and genetics at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins, and one of the study's senior authors. "This latest finding would not have been possible without these many research groups and consortia pooling together their patient resources. Of course, they would not have been possible without the genomic scanning technologies either."

...

full story? See http://www.sciencedaily.com/releases/2009/10/091007131210.htm

see also http://www.eurekalert.org/pub_releases/2009-10/biom-gso100509.php