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Mitochondrial DNA mutations and cardiovascular disease

Bray, Alexander W.; Ballinger, Scott W.

Current Opinion in Cardiology: May 2017 - Volume 32 - Issue 3 - p 267–274
doi: 10.1097/HCO.0000000000000383
MOLECULAR GENETICS: Edited by Ali J. Marian

Purpose of review Cardiovascular disease (CVD) is responsible for more morbidity and mortality worldwide than any other ailment. Strategies for reducing CVD prevalence must involve identification of individuals at high risk for these diseases, and the prevention of its initial development. Such preventive efforts are currently limited by an incomplete understanding of the genetic determinants of CVD risk. In this review, evidence for the involvement of inherited mitochondrial mutations in development of CVD is examined.

Recent findings Several forms of CVD have been documented in the presence of pathogenic mitochondrial DNA (mtDNA) mutations, both in isolation and as part of larger syndromes. Other ‘natural’ mtDNA polymorphisms not overtly tied to any pathology have also been associated with alterations in mitochondrial function and individual risk for CVD, but until very recently these studies have been merely correlative. Fortunately, novel animal models are now allowing investigators to define a causal relationship between inherited ‘natural’ mtDNA polymorphisms, and cardiovascular function and pathology.

Summary Cardiovascular involvement is highly prevalent among patients with pathogenic mtDNA mutations. The relationship between CVD susceptibility and ‘natural’ mtDNA polymorphisms requires further investigation, but will be aided in the near future by several novel experimental models.

Division of Molecular and Cellular Pathology, Department of Pathology, University of Alabama, Birmingham, Alabama, USA

Correspondence to Scott W. Ballinger, PhD, Division of Molecular and Cellular Pathology, Department of Pathology, University of Alabama at Birmingham, BMR2 535, 1530 3rd Ave S, Birmingham, AL 35294, USA. Tel: +1 205 934 4621; e-mail:

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