Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders

Athena Hadjixenofontos, Michael A. Schmidt, Patrice L. Whitehead, Ioanna Konidari, Dale J. Hedges, Harry H. Wright, Ruth K. Abramson, Ramkumar Menon, Scott M. Williams, Michael L. Cuccaro, Jonathan L. Haines, John R. Gilbert, Margaret A. Pericak-Vance, Eden R. Martin, Jacob L. McCauley

    Research output: Contribution to journalArticlepeer-review

    29 Scopus citations


    Despite the increasing speculation that oxidative stress and abnormal energy metabolism may play a role in Autism Spectrum Disorders (ASD), and the observation that patients with mitochondrial defects have symptoms consistent with ASD, there are no comprehensive published studies examining the role of mitochondrial variation in autism. Therefore, we have sought to comprehensively examine the role of mitochondrial DNA (mtDNA) variation with regard to ASD risk, employing a multi-phase approach. In phase 1 of our experiment, we examined 132 mtDNA single-nucleotide polymorphisms (SNPs) genotyped as part of our genome-wide association studies of ASD. In phase 2 we genotyped the major European mitochondrial haplogroup-defining variants within an expanded set of autism probands and controls. Finally in phase 3, we resequenced the entire mtDNA in a subset of our Caucasian samples (∼400 proband-father pairs). In each phase we tested whether mitochondrial variation showed evidence of association to ASD. Despite a thorough interrogation of mtDNA variation, we found no evidence to suggest a major role for mtDNA variation in ASD susceptibility. Accordingly, while there may be attractive biological hints suggesting the role of mitochondria in ASD our data indicate that mtDNA variation is not a major contributing factor to the development of ASD.

    Original languageEnglish (US)
    Pages (from-to)9-21
    Number of pages13
    JournalAnnals of Human Genetics
    Issue number1
    StatePublished - Jan 2013


    • Association studies
    • Autism
    • Autism spectrum disorders
    • Genetic
    • Mitochondrial DNA

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)


    Dive into the research topics of 'Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders'. Together they form a unique fingerprint.

    Cite this