| Literature DB >> 30910572 |
Periyasamy Govindaraj1, Bindu Rani2, Pandarisamy Sundaravadivel3, Ayyasamy Vanniarajan3, K P Indumathi4, Nahid Akthar Khan3, Perundurai S Dhandapany5, Deepa Selvi Rani3, Rakesh Tamang3, Ajay Bahl6, Calambur Narasimhan7, Dharma Rakshak8, Andiappan Rathinavel9, Kumpati Premkumar10, Madhu Khullar2, Kumarasamy Thangaraj11.
Abstract
Idiopathic dilated cardiomyopathy (DCM) is a structural heart disease with strong genetic background. The aim of this study was to assess the role of mitochondrial DNA (mtDNA) variations and haplogroups in Indian DCM patients. Whole mtDNA analysis of 221 DCM patients revealed 48 novel, 42 disease-associated and 97 private variations. The frequency of reported variations associated with hearing impairment, DEAF, SNHL and LHON are significantly high in DCM patients than controls. Haplogroups H and HV were over represented in DCM than controls. Functional analysis of two private variations (m.8812A>G & m.10320G>A) showed decrease in mitochondrial functions, suggesting the role of mtDNA variations in DCM.Entities:
Keywords: Cybrids; DCM; Haplogroups; Mitochondria; Mutations; mtDNA
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Year: 2019 PMID: 30910572 DOI: 10.1016/j.mito.2019.03.003
Source DB: PubMed Journal: Mitochondrion ISSN: 1567-7249 Impact factor: 4.160