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Mitochondrial genome variations in idiopathic dilated cardiomyopathy
P. Govindaraj, B. Rani, P. Sundaravadivel, A. Vanniarajan, K.P. Indumathi, N.A. Khan, P.S. Dhandapany, D.S. Rani, , A. BahlShow More
Published in Elsevier B.V.
PMID: 30910572
Volume: 48
Pages: 51 - 59
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. © 2019 Elsevier B.V. and Mitochondria Research Society
About the journal
JournalData powered by TypesetMitochondrion
PublisherData powered by TypesetElsevier B.V.