Mitochondrial DNA mutations contribute to autism and also to the characteristics of mitochondrial disorders present in patients with autism spectrum disorders

Intellectual disability (ID) is common among autism spectrum disorder (ASD) patients. Also, evidence from many fields of medicine has documented multiple non-CNS physiological abnormalities associated with ASD, suggesting that, in some individuals, ASD arises from systemic, rather than organ-specific abnormalities. Oxidative phosphorylation and mitochondrial dysfunction are frequently reported in ASD and ID and can be due to mitochondrial DNA mutations. Therefore, the objective of the study was to analyze the mitochondrial DNA of ID subjects with ASD (N=98) and without ASD (N=95) to identify putative pathogenic variants that could be associated with ID or ASD. The genome of reference used in this is study is NC_012920.1 (rCRS) (Homo sapiens mitochondrion).

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

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Dataset ID	Description	Technology	Samples
EGAD00001004213	Sequences from 95 subjects presenting intellectual disability (ID) and 98 subjects presenting intellectual disability and a diagnosis of autism spectrum disorder (ASD). The mtDNA was amplified by long-range PCR with 3 pairs of primers producing overlapping fragments. The three fragments were mixed in equimolar ratios and each sample was sequenced in an Ion Torrent Personal Machine according to manufacturer's user guide (reference genome: NC_012920.1 (rCRS)).		193

Publications	Citations
Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability. Valiente-Pallejà A, Torrell H, Muntané G, Cortés MJ, Martínez-Leal R, Abasolo N, Alonso Y, Vilella E, Martorell L. Hum Mol Genet 27: 2018 891-900	34
High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability. Bulduk BK, Tortajada J, Torres-Egurrola L, Valiente-Pallejà A, Martínez-Leal R, Vilella E, Torrell H, Muntané G, Martorell L. J Intellect Disabil Res 69: 2025 137-152	1