autism spectrum disorder (ASD) tagged posts

According to some estimates, hundreds of genes may be associated with autism spectrum disorders (ASD), but it has been difficult to determine which mutations are truly involved in the disease and which are incidental. New work published in the journal Science Translational Medicine led by researchers at Baylor College of Medicine shows that a novel computational approach can effectively identify genes most likely linked to the condition, as well as predict the severity of intellectual disability in patients with ASD using only rare mutations in genes beyond those already associated with the syndrome.

Knowing which genes contribute to ASD, researchers can then study them to better understand how the condition happens and use them to improve predicting the ri...

Woo-Yang Kim, Ph.D.

A breakthrough in finding the mechanism and a possible therapeutic fix for autism and intellectual disability has been made by a University of Nebraska Medical Center researcher and his team at the Munroe-Meyer Institute (MMI). Woo-Yang Kim, Ph.D., associate professor, developmental neuroscience, led a team of researchers from UNMC and Creighton University into a deeper exploration of a genetic mutation that reduces the function of certain neurons in the brain.

“This is an exciting development because we have identified the pathological mechanism for a certain type of autism and intellectual disability,” Dr. Kim said...

Autism spectrum disorder linked to mutations in some mitochondrial DNA. CREDIT Darryl Leja, NHGRI, Flickr

Children diagnosed with autism spectrum disorder (ASD) have greater numbers of harmful mutations in their mitochondrial DNA than family members. Increasingly, studies point to malfunctions in mitochondria as a cause of autism spectrum disorder, but the biological basis for this relationship is unclear. To see if a genetic link exists between mitochondrial malfunction and ASD, the scientists analyzed mitochondrial DNA sequences from 903 children with ASD, along with their unaffected siblings and mothers.

They discovered a unique pattern of heteroplasmic mutations, where both mutant and normal mitochondrial DNA sequences exist in a single cell...