Study Identifies Genes Tied to Autism

A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time.
 Several of these genes also appear to be altered in different ways in individuals with psychiatric disorders such as schizophrenia, symptoms of which may begin in adolescence or adulthood. Results of the study by a multi-institutional research team will appear in the April 27 issue of Cell and have been released online.
"By sequencing the genomes of a group of children with neurodevelopmental abnormalities, including autism, who were also known to have abnormal chromosomes, we identified the precise points where the DNA strands are disrupted and segments exchanged within or between chromosomes. As a result, we were able to discover a series of genes that have a strong individual impact on these disorders," says James Gusella, PhD, director of the Massachusetts General Hospital Center for Human Genetic Research (MGH CHGR) and senior author of the Cell paper. "We also found that many of these genes play a role in diverse clinical situations -- from severe intellectual disability to adult-onset schizophrenia -- leading to the conclusion that these genes are very sensitive to even subtle perturbations."

New Clues to Genetic Root of Autism

Random changes in genes, rather than changes handed down from parents, may be responsible for some cases of autism, say scientists who report in three new papers a major breakthrough in understanding where those genetic changes may lie.
The findings suggest that autism is a genetically complex disorder, involving perhaps hundreds of spontaneous changes in genes. The discoveries should help researchers gain a better understanding of the biology of the disorder and find targets for better treatments. It's latest in a steady stream of good news from autism researchers recently, who have reported on innovative ways to diagnose the disorder earlier and on new genes that contribute to it.