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- W1983533601 abstract "We review the current status of the role and function of the mitochondrial DNA (mtDNA) in the etiology of autism spectrum disorders (ASD) and the interaction of nuclear and mitochondrial genes. High lactate levels reported in about one in five children with ASD may indicate involvement of the mitochondria in energy metabolism and brain development. Mitochondrial disturbances include depletion, decreased quantity or mutations of mtDNA producing defects in biochemical reactions within the mitochondria. A subset of individuals with ASD manifests copy number variation or small DNA deletions/duplications, but fewer than 20 percent are diagnosed with a single gene condition such as fragile X syndrome. The remaining individuals with ASD have chromosomal abnormalities (e.g., 15q11-q13 duplications), other genetic or multigenic causes or epigenetic defects. Next generation DNA sequencing techniques will enable better characterization of genetic and molecular anomalies in ASD, including defects in the mitochondrial genome particularly in younger children." @default.
- W1983533601 created "2016-06-24" @default.
- W1983533601 creator A5001065191 @default.
- W1983533601 creator A5010793257 @default.
- W1983533601 creator A5045905377 @default.
- W1983533601 date "2011-08-01" @default.
- W1983533601 modified "2023-09-26" @default.
- W1983533601 title "Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders:A Review" @default.
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- W1983533601 doi "https://doi.org/10.2174/138920211796429745" @default.
- W1983533601 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3145262" @default.
- W1983533601 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22294875" @default.
- W1983533601 hasPublicationYear "2011" @default.
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