Objectives The present review aimed to systematically characterize existing literature regarding the involvement of mtDNA variants in the pathophysiology of ASD. Methods A systematic search of publications in three online databases plus a manual search of reference lists of included articles was performed to collate potentially eligible literature. The study selection and data extraction were conducted by two independent authors, and the discrepancies in each step were settled through discussions.Results From 1874 resulting searched articles, 28 studies remained for this review. These included studies involving 3 studies reported ancient haplogroup variants, 16 studies reported point mutations, 7 studies reported copy number variants, and 8 studies reported deletions, with point mutation being the most common type of disease-related variants.Conclusions Findings generated from this review support mtDNA variants as important contributory components in susceptibility to ASD, since most variants have yet been mapped to specific loci, and the exact pathogenic mechanism remains to be determined.
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