Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.

ABSTRACT:

Importance

Autism spectrum disorders (ASD) are characterized by impairments in social interaction, communication, and repetitive or restrictive behavior. Although multiple physiologic and biochemical studies have reported defects in mitochondrial oxidative phosphorylation in patients with ASD, the role of mitochondrial DNA (mtDNA) variation has remained relatively unexplored.

Objective

To assess what impact mitochondrial lineages encompassing ancient mtDNA functional polymorphisms, termed haplogroups, have on ASD risk.

Design, setting, and participants

In this cohort study, individuals with autism and their families were studied using the Autism Genetic Resource Exchange cohort genome-wide association studies data previously generated at the Children's Hospital of Phi

SUBMITTER: Chalkia D 

PROVIDER: S-EPMC5710217 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature