Three teams of scientists have for the first time homed in on several gene mutations they say sharply increase the chances that a child will develop autism.

The findings offer further evidence that the risk increases with the age of the parents, particularly the father.

The gene mutations are extremely rare and together account for a tiny fraction of autism cases, suggesting the disease may represent a broad category of related but biologically distinct conditions.

There are likely hundreds, perhaps thousands, of rare mutations that could disrupt brain development enough to result in social and developmental delays.

But experts said the overlapping results reported in three papers posted online Wednesday in the journal Nature give scientists working on the genetics of autism something they have not had: a clear strategy for building a real understanding of the disease's biological basis.

Researchers hope to find more similar, rare mutations in the next year or so that they estimate could account for 10 percent to 20 percent of all cases.

Biologists have looked in vain for a reliable, verifiable foothold from which to investigate the underlying genetics of so-called autism spectrum disorders. Those include Asperger's syndrome and related social difficulties that are being diagnosed at alarmingly high rates on average, in one of 88 children, according to a government estimate released last week.

Previous studies produced a scattering of gene findings but little consensus or confidence in how to proceed. The new work provides a measure of both, as well as strong backing for earlier studies linking autism to the age of new fathers.

Jonathan Sebat, a geneticist at the University of California, San Diego, saw the work as a turning point: We now have a reliable way forward, and I think it's fair to expect that we will find 20, 30, maybe more such mutations in the next year.

Other researchers were more cautious, saying the genetics of rare mutations was not yet well enough understood to make conclusive statements about their effect on the behavior of specific genes.

Excerpt from:
Rare Gene Mutations Found To Heighten Risk Of Autism

Comments are closed.