Two large studies about Autism were released this week in Nature magazine, and I wanted to make sure you guys saw this information! Time magazine did a wonderful job covering the new discoveries, plus linking parents to more information about Autism.
Here is part of what Time reported and here is the link to the full story!
“The largest genetic study of autism ever attempted – involving more than 3,000 participants from AGRE, 1,453 cases from other sources and over 7,000 additional control subjects – identified genetic variations in a region of chromosome 5 that appears to play a pivotal role in about 15% of cases of autism. What makes this region particularly fascinating is that it seems to regulate gene-coding for proteins that are essential to forming connections in the brain. This fits well with earlier research – including imaging and autopsy studies – that suggest autism is essentially a disorder of poor connections in the brain. . .”
“A second paper in Nature, published by the same team at CHOP along with scientists at numerous other institutions, looked at a specific kind of genetic change: deletions and duplications of genes. While there are many such changes associated with autism, most are very rare. This paper, however, found an intriguing pattern among two genes already linked to autism and nine newly identified targets. Most play a role in two key systems in the brain. One is the same brain-wiring system – neural cell adhesion – implicated in the first paper. The second is a set of housekeeping proteins – the ubiquitin system – that whisk away old brain connections and set the stage for new ones …”
“We are starting to get convergence around genes that affect how synapses and connections in the brain are made and maintained … particularly in the frontal lobe” says Geraldine Dawson, chief science officer for Autism Speaks, an advocacy group that, along with the National Institutes of Health, funds the AGRE database. The hope, says Dawson, a co-author of the two Nature papers, is that researchers could ultimately develop drugs that affect the biochemical pathways associated with these genes.
I have added a new Autism category to our links on the right-hand side and will continue to add information about Autism research as it appears in the news.