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Lookup NU author(s): Dr Joanna Elson
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2007 - 2019 Frontiers Media S.A. All Rights Reserved. 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 of common complex traits. The aim of this study was to investigate a potential role of mtDNA variants in the development of obesity, diabetes, and atherosclerosis in the Polish population. Whole mtDNA sequences from 415 Polish individuals representing three disease cohorts and a control group were obtained using high-throughput sequencing. Two approaches for the assessment of mtDNA variation were applied, traditional mitochondrial haplogroup association analysis and the mutational or variant load model using the MutPred pathogenicity prediction algorithm for amino acid substitutions in humans. We present a possible association between mildly deleterious mtDNA variant load and atherosclerosis that might be due to having more than one likely mildly deleterious non-synonymous substitution. Moreover, it seems largely dependent upon a few common haplogroup associated variants with MutPred score above 0.5.
Author(s): Piotrowska-Nowak A, Elson JL, Sobczyk-Kopciol A, Piwonska A, Puch-Walczak A, Drygas W, Ploski R, Bartnik E, Tonska K
Publication type: Article
Publication status: Published
Journal: Frontiers in Genetics
Year: 2019
Volume: 9
Online publication date: 08/01/2019
Acceptance date: 14/12/2018
Date deposited: 02/05/2019
ISSN (electronic): 1664-8021
Publisher: Frontiers Media S.A.
URL: https://doi.org/10.3389/fgene.2018.00702
DOI: 10.3389/fgene.2018.00702
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