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Review
. 2020 Aug 12;21(16):5785.
doi: 10.3390/ijms21165785.

The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives

Luigi Citrigno  1 , Maria Muglia  1 , Antonio Qualtieri  1 , Patrizia Spadafora  1 , Francesca Cavalcanti  1 , Giovanni Pioggia  2 , Antonio Cerasa  1   3
Affiliations
Review

The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives

Luigi Citrigno et al. Int J Mol Sci. .

Abstract

Autism spectrum disorders (ASDs) constitute a set of heterogeneous neurodevelopmental conditions, characterized by a wide genetic variability that has led to hypothesize a polygenic origin. The metabolic profiles of patients with ASD suggest a possible implication of mitochondrial pathways. Although different physiological and biochemical studies reported deficits in mitochondrial oxidative phosphorylation in subjects with ASD, the role of mitochondrial DNA variations has remained relatively unexplored. In this review, we report and discuss very recent evidence to demonstrate the key role of mitochondrial disorders in the development of ASD.

Keywords: autism spectrum disorder (ASD); mitochondrial DNA (mtDNA); mitochondrial dysfunctions; next generation sequencing (NGS).

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Conflict of interest statement

The authors declare no conflict of interest.

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