Complex Genetic Mutations Contribute to Autism, Studies Say ...

iStockphoto Researchers say they have identified gene mutations that contribute to autism in three separate studies. The mutations identified were rare and aren?t necessarily present in the parents, only the offspring, which has made finding them difficult for scientists. ?It just goes to show how complex the genetic architecture of autism is,? says Thomas Lehner, chief of the NIMH Genomics Research Branch , which funded one of the studies and helped to create the Autism Sequencing Consortium. Together, the studies allow scientists to estimate for the first time that some 500 to 1,000 mutations are likely involved in autism, Lehner tells the Health Blog. Abstracts for the studies, which were published in Nature, can be found here , here , and here . The work, conducted by three separate research groups on independent patient samples, also confirms earlier research that older paternal age appears a risk factor for the condition. Researchers hope to identify as many genetic mutations as possible. The hope is that they will then be able to determine how the mutations are interconnected, which might enable the development of drugs to repair the neural pathways autism alters, Lehner says.

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Complex Genetic Mutations Contribute to Autism, Studies Say

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