Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications

Macken, William L.; Lucassen, Anneke; Hanna, Michael G.; Pitceathly, Robert D S

doi:10.1038/s41576-021-00381-5

Cited by 6 publications

(1 citation statement)

References 9 publications

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“…Right now, however, we are at the beginning of understanding the complex relationships of mtDNA haplotypes, genetic disease incidence, and the contribution to health disparities. Since mtDNA mutations may cause unanticipated, extended phenotypes and have reproductive implications [50] it is imperative that we systematically broaden the sampling database of these studies so that the evolutionary and biomedical inferences can be anticipated.…”

Section: Discussionmentioning

confidence: 99%

Thanks Mom! The Evolution-Health Disparities Link Through Mitochondrial Genetic Disease

Jackson,

Mingo,

Caldwell

et al. 2023

ACMR

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Anatomically modern humans evolved in Africa ~300,000 years ago. For this reason, the evolution of mtDNA genetic variants tracks the migratory histories of humanity worldwide. With these genetic variants have come corresponding diversity in mtDNA-associated genetic diseases. These tend to aggregate in ethnic and regional groups in conjunction with the concentration of specific mtDNA haplotypes in these same groups. Given the ubiquity of mtDNA in every human cell, the fact that mtDNA molecules encode genes for the mitochondrial respiratory chain, protein synthesis, and regulation, are of primarily maternal heritage, and do not undergo recombination, it is not surprising that mtDNA genetic diversity in combination with environmental factors influences health disparities.

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Section: Discussionmentioning

confidence: 99%