BIROn - Birkbeck Institutional Research Online

    Mitochondrial dysfunction in Autism Spectrum Disorders

    Siddiqui, M.F. and Elwell, Clare and Johnson, Mark H. (2016) Mitochondrial dysfunction in Autism Spectrum Disorders. Autism Open Access 6 (5), ISSN 2165-7890.

    Auo-16-662.pdf - Published Version of Record
    Available under License Creative Commons Attribution.

    Download (515kB) | Preview


    Autism spectrum disorders (ASD) are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. Recently, evidence has accrued that a significant proportion of individuals with autism have concomitant diseases such as mitochondrial disease and abnormalities of energy generation. This has therefore led to the hypothesis that autism may be linked to mitochondrial dysfunction. We review such studies reporting decreased activity of mitochondrial electron transport chain (ETC) complexes and reduced gene expression of mitochondrial genes, in particular genes of respiratory chain complexes, in individuals with autism. Overall, the findings support the hypothesis that there is an association of ASD with impaired mitochondrial function; however, many of the studies have small sample sizes and there is variability in the techniques utilised. There is therefore a vital need to utilise novel imaging techniques, such as near-infrared spectroscopy, that will allow noninvasive measurement of metabolic markers for neuronal activity such as cytochrome c oxidase, in order to better establish the link between autism and mitochondrial dysfunction.


    Item Type: Article
    Keyword(s) / Subject(s): Autism, Mitochondrial, dysfunction, Mitochondrial, health, Energy, metabolism, Electron, transport, chain, Mitochondrial, deficiency
    School: Birkbeck Faculties and Schools > Faculty of Science > School of Psychological Sciences
    Research Centres and Institutes: Brain and Cognitive Development, Centre for (CBCD)
    Depositing User: Mark Johnson
    Date Deposited: 15 Nov 2016 14:16
    Last Modified: 02 Aug 2023 17:27


    Activity Overview
    6 month trend
    6 month trend

    Additional statistics are available via IRStats2.

    Archive Staff Only (login required)

    Edit/View Item Edit/View Item