Clinical and molecular characteristics of mitochondrial dysfunction in autismspectrum disorder

This 2018 article states that autism spectrum disorder is likely to be caused by environmental factors triggering physiological abnormalities in genetically sensitive individuals. Since mitochondrial dysfunction is a potentially highly prevalent major physiological abnormality, Rose et al. conducted a systematic review on the clinical studies investigating mitochondrial dysfunction related to autism spectrum disorder (ASD). Clinical features of ASD include unusual neurodevelopmental regression, gastrointestinal symptoms, seizures, motor delays, fatigue, and lethargy. Moreover, genetic abnormalities such as irregularities in chromosomes, mitochondrial DNA, and nuclear genes are associated with mitochondrial dysfunction in ASD. Several environmental factors such as toxicants, microbiome metabolites, and an oxidized microenvironment have been shown to modulate mitochondrial function in the tissues of ASD patients. Finally, the research on therapeutic options for mitochondrial dysfunction in ASD are promising but in the preliminary stages. Also, it is not yet clear which factors cause mitochondrial dysfunction nor has it been easy to define it in terms of ASD. However, the mitochondria are thought to be a promising target for the treatment and prevention of ASD based on early research. [NPID: autism, autism spectrum, autism spectrum disorder, ASD, environment, review, genetics, mitochondria, neurodevelopment]

Year: 2018

Reference: Rose, S., Niyazov, D. M., Rossignol, D. A., Goldenthal, M., Kahler, S. G., & Frye, R. E. (2018). Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder. Molecular diagnosis & therapy, 22(5), 571–593. https://doi.org/10.1007/s40291-018-0352-x