Wednesday, August 15, 2007

Autism Researchers Think They Are Closing In on Cause

This extensive Newsday article by Delthia Ricks focuses on recent genetic research and the reaction of some parents of children on the spectrum.
" With his Cold Spring Harbor [Laboratory] collaborators, Jonathan Sebat and Lakshmi Muthuswamy, [Michael] Wigler has found that spontaneous mutations specific to autism occur with a relative degree of frequency in the human genome. These random strikes are technically known as copy number variants, or CNVs. The Cold Spring Harbor team defines these mutating hits as a major cause of autism."

"Support from the Simons Foundation has allowed the researchers to collect genetic samples from 264 families nationwide, involving more than 1,000 individuals. Within these families, Wigler and colleagues were able to identify 118 families they dubbed as "simplex" where only one member displayed symptoms of autism and 47 families that were identified as "multiplex," with two or more affected siblings. The rest were controls.By studying families, the team was able to determine whether a child's genes were identical to the parents' or whether they contained variants. The investigation revealed the variants were most prevalent among people with autism."

"Alison Singer, executive director of Autism Speaks, a national advocacy organization, said the Cold Spring Harbor studies are destined to have a strong impact on how parents understand autism."We want them to pursue the science wherever it leads," Singer said. "But we don't want to get into a situation where we blame the parents. When some parents read stories about older fathers or older mothers, they can become very sensitive."Singer said what's missing in Wigler's work is the mechanism that causes genes to mutate. Susceptibility genes, she said, often need an outside stimulus to set off a genetic chain of events. Perhaps parents may be correct who think vaccination underlies autism, said Singer, whose daughter and brother are autistic."

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