Understanding the implications of mitochondrial DNA variation in the health of Black southern African populations: the 2014 workshop

Abstract

This report describes the outcomes of a workshop that dealt with the role of mtDNA variation in the health of Black African popula- tions, which was held in November 2014 at Potchefstroom, South Africa, and supported by the National Research Foundation of South Africa and the Royal Society of the United Kingdom. The meeting aimed to review our understanding of mitochondrial variation and disease and considered inherited mitochondrial disorders and the role of mtDNA variants in common disease in Black African popu- lations, particularly in southern Africa. It was hosted by the North- West University, Potchefstroom campus (http://www.nwu.ac.za/) and invitees were based in either a South African or British Univer- sity. Although small in size, with 20 attendees (15 from South Africa and 5 from the UK), the core of the South African mitochondrial community was present along with some of those in the UK with overlapping academic interests. Those interested in mtDNA from a clinical perspective were well represented including clinical geneti- cists, clinical pharmacologists, pediatric and adult neurologists, and diagnostic scientists. Additionally, scientists specializing in genetic susceptibility and pharmacogenomics, as well as scientists involved in fundamental biochemical and molecular research on mitochon- drial function and disease, were present. The meeting considered both the identification of pathogenic mutations causing mitochon- drial disease in patients, and the importance of conducting mtDNA association studies in southern African populations