Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.

ABSTRACT:

Background

The etiology of autism spectrum disorders (ASD) is very heterogeneous. Mitochondrial dysfunction has been described in ASD; however, primary mitochondrial disease has been genetically proven in a small subset of patients. The main goal of the present study was to investigate correlations between mitochondrial DNA (mtDNA) changes and alterations of genes associated with mtDNA maintenance or ASD.

Methods

Sixty patients with ASD and sixty healthy individuals were screened for common mtDNA mutations. Next generation sequencing was performed on patients with major mtDNA deletions (mtdel-ASD) using two gene panels to investigate nuclear genes that are associated with ASD or are responsible for mtDNA maintenance. Cohorts of healthy controls, ASD patients without mtDNA al

SUBMITTER: Varga NA 

PROVIDER: S-EPMC5819172 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature