Mitochondrial DNA sequences of South African population: The SABPA study

Mitochondria are intricately involved in cell homeostatic and adaptive stress signalling pathways, and play a central role in cell differentiation, proliferation and death. Consequently, mitochondrial dysfunction has been implicated in a vast number of rare and common disease phenotypes. Mitochondrial DNA (mtDNA) encoded for 13 protein sub-units essential to mitochondrial function, as well as two subunits for mt-rRNA and 22 mt-tRNA molecules, required to translate and transcribe these proteins. As such, mtDNA variation, which could directly cause alterations in mitochondrial function and downstream processes, has been investigated as a possible risk factor in disease susceptibility, onset and progression. In this study, the role of mtDNA variation in cardiometabolic disease (CMD) was investigated.