Autism Linked to Hundreds of Genetic Mutations

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[Source: Los Angeles Times]

Three new studies conclude that autism disorders are genetically very complex, not caused by one or two gene defects. The potential changes in DNA may produce what are essentially different forms of autism.

Autism is not caused by one or two gene defects but probably by hundreds of different mutations, many of which arise spontaneously, according to research that examined the genetic underpinnings of the disorder in more than 1,000 families.

The findings, reported in three studies published Wednesday in the journal Neuron, cast autism disorders as genetically very complex, involving many potential changes in DNA that may produce, essentially, different forms of autism.

The affected genes, however, appear to be part of a large network involved in controlling the development of synapses, the critical junctions between nerve cells that allow them to communicate, according to one of the three studies.

Although the work will have no immediate value to patients or their families, the insights provide a wealth of targets to pursue in developing treatments for the disorder, scientists said. Understanding the genetic causes of autism spectrum disorders may promote more accurate diagnoses, and research on synapse formation and function could yield treatments that address the flow of signals between nerve cells.

“For the first time we’re getting a sense of how many areas of the genome are likely to contribute to autism,” said Dr. Matthew W. State, associate professor of psychiatry and of genetics at Yale University and the lead investigator of one of the reports. “We know there are multiple, different ways to get autism.”

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