Govindaraj 2019 Mitochondrion
|Govindaraj P, Rani B, Sundaravadivel P, Vanniarajan A, Indumathi KP, Khan NA, Dhandapany PS, Rani DS, Tamang R, Bahl A, Narasimhan C, Rakshak D, Rathinavel A, Premkumar K, Khullar M, Thangaraj K (2019) Mitochondrial genome variations in idiopathic dilated cardiomyopathy. Mitochondrion 48:51-59.|
Govindaraj P, Rani B, Sundaravadivel P, Vanniarajan A, Indumathi KP, Khan NA, Dhandapany PS, Rani DS, Tamang R, Bahl A, Narasimhan C, Rakshak D, Rathinavel A, Premkumar K, Khullar M, Thangaraj K (2019) Mitochondrion
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 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 decreased mitochondrial functions, suggesting the role of mtDNA variations in DCM.
Copyright © 2019. Published by Elsevier B.V.
Labels: MiParea: Respiration, mtDNA;mt-genetics
Organism: Human Tissue;cell: Endothelial;epithelial;mesothelial cell Preparation: Intact cells