heteroplasmic mutations tagged posts

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...