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

Abstract

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