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The aetiology of cardiovascular disease: A role for mitochondrial DNA?

Lookup NU author(s): Dr Joanna Elson


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© Cardiovascular Journal of Africa. All rights reserved. Cardiovascular disease (CVD) is a world-wide cause of mortality in humans and its incidence is on the rise in Africa. In this review, we discuss the putative role of mitochondrial dysfunction in the aetiology of CVD and consequently identify mitochondrial DNA (mtDNA) variation as a viable genetic risk factor to be considered. We then describe the contribution and pitfalls of several current approaches used when investigating mtDNA in relation to complex disease. We also propose an alternative approach, the adjusted mutational load hypothesis, which would have greater statistical power with cohorts of moderate size, and is less likely to be affected by population stratification. We therefore address some of the shortcomings of the current haplogroup association approach. Finally, we discuss the unique challenges faced by studies done on African populations, and recommend the most viable methods to use when investigating mtDNA variation in CVD and other common complex disease.

Publication metadata

Author(s): Venter M, van der Westhuizen FH, Elson JL

Publication type: Review

Publication status: Published

Journal: Cardiovascular Journal of Africa

Year: 2018

Volume: 29

Issue: 2

Pages: 122-132

Print publication date: 01/03/2018

Online publication date: 24/08/2017

Acceptance date: 31/07/2017

ISSN (print): 1995-1892

ISSN (electronic): 1996-3467

Publisher: Clinics Cardive Publishing (PTY)Ltd


DOI: 10.5830/CVJA-2017-037