Browsing by Subject "MutPred"
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The aetiology of cardiovascular disease: a role for mitochondrial DNA?
(Clinics Cardive Publishing, 2018)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 ... -
Investigation of the involvement of mitochondrial DNA variants in cardiometabolic disease : the SABPA study
(North-West University (South Africa), Potchefstroom Campus, 2017)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 ... -
MutPred mutational load analysis shows mildly deleterious mitochondrial DNA variants are not more prevalent in Alzheimer's patients, but may be under-represented in healthy older individuals
(Elsevier, 2017)Mitochondrial DNA (mtDNA) association studies have been conducted for over a decade using the haplogroup (lineage) association method, but this frequently produces conflicting results. Here we analyzed complete mtDNA ... -
New mtDNA association model, MutPred variant load, suggests individuals with multiple mildly deleterious mtDNA variants are more likely to suffer from atherosclerosis
(Frontiers Media, 2019)The etiology of common complex diseases is multifactorial, involving both genetic, and environmental factors. A role for mitochondrial dysfunction and mitochondrial DNA (mtDNA) variation has been suggested in the pathogenesis ... -
Using MutPred derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort: the SABPA study
(Elsevier, 2017)Mitochondrial DNA (mtDNA) variation has been implicated in many common complex diseases, but inconsistent and contradicting results are common. Here we introduce a novel mutational load hypothesis, which also considers the ...