Monday, May 07, 2007


"De novo point mutations in such genes could explain the advanced paternal age association that has been reported for autism13. There is no evidence, however, that the risk of a de novo CNV is related to the age of either parent
Arthur L. Beaudet in his paper, Nature Medicine - 13, 534 - 536 (2007)
Autism: highly heritable but not inherited
Arthur L Beaudet

U-I researchers find genetic link to autism
Monday, May 7, 2007, 4:11 PM
By Darwin Danielson
University of Iowa researchers have found a genetic mutation that contributes to a brain disorder that inhibits a person's ability to communicate and develop social relationships. Dr. Thomas Wassink says the finding involving autism was part of a larger study of families which have children with the disorder.

Wassink says there was one family where they found "a piece of a chromosome missing in the middle of a really interesting gene, in two girls with autism from this family."

Wassink says they did further study to narrow down the gene mutation. Wassink says, "At some point in the embryonic development of the father, an abnormality occurred or a mutation arose in his primordial sperm cell." Wassink says the discovery of the mutation led to more research. He says the screened the gene, called "neurexin one," for mutations in about 400 other individuals with autism, but didn't find any additional mutations of the gene in people with autism. Wassink says it appears the mutations in the gene in this particular family are not a very common cause of autism.

Wassink says the exciting thing is that this is one of a groups of genes where mutations have been found in the proteins in the synapse that send messages between nerve cells. Wassink says this tells researchers that other genes and proteins in this particular synapse are worth looking at to screen for other mutations that might be related to autism.

Wassink says having a clue about where to look for the problem is important. He says there are well over 10,000 genes in the brain, and finding the right ones to look at is not easy. Wassink says this finding helps them look at a more specific set of genes. Wassink says the finding could eventually help with treatments for autism.

Wassink says it may indicate different types of medications to try in treating autism. Wassink, who is an associate professor of psychiatry, says this study does not show any link to an earlier study that indicated that the chances for autism increased with the age of the father. Wassink says age is not a factor in this finding.



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