Abstract:
Knowledge concerning the prevalence and severity of disease
related to/associated with variations in mitochondrial DNA
(mtDNA) in Black African populations lags behind that of other
groups from a global perspective. Developing an understanding of
the variants that cause mitochondrial disease in this population is
clearly interesting from a scientific perspective, and is also of
importance to health services in Africa and nations outside of the
African continent with appreciable populations of African origin.
In addition to identifying mtDNA mutations causing
mitochondrial disease, unravelling the role of mtDNA variants in
complex disease is of great relevance and will require the coming
together of many emerging specialities in southern Africa. This
effort will be aided if conducted in a wider collaborative manner in
the context of forums such as the South African Human Genome
Programme (SAHGP; http://sahgp.sanbi.ac.za), H3 Africa, and the
Human Variome Project (HVP; http://
www.humanvariomeproject.org).
