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Spontaneous gene glitches linked to autism risk with older dads
Date:4/4/2012

ons in autism, those pinpointed were biologically related to each other and to genes previously implicated in autism.

The Eichler team turned up clues to how environmental factors might influence genetics. The high turnover in a male's sperm cells across the lifespan increases the chance for errors to occur in the genetic translation process. These can be passed-on to the offspring's DNA, even though they are not present in the father's DNA. This risk may worsen with aging. The researchers discovered a four-fold marked paternal bias in the origins of 51 spontaneous mutations in coding areas of genes that was positively correlated with increasing age of the father. So such spontaneous mutations could account for findings of an earlier study that found fathers of boys with autism were six times and of girls 17 times more likely to be in their 40's than their 20's.

"We now have a path forward to capture a great part of the genetic variability in autism even to the point of being able to predict how many mutations in coding regions of a gene would be needed to account for illness," said Thomas Lehner, Ph.D., chief of the NIMH Genomics Research Branch, which funded the Daly study and helped to create the Autism Sequencing Consortium. "These studies begin to tell a more comprehensive story about the molecular underpinnings of autism that integrates previously disparate pieces of evidence."


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Contact: Jules Asher
NIMHpress@nih.gov
301-443-4536
NIH/National Institute of Mental Health
Source:Eurekalert

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