Mitochondrial DNA variations associated with hypertrophic cardiomyopathy

• DOI: 10.1016/j.mito.2013.10.006
• Publication Date: 2013-11-09T09:00:52Z
• Authors: Periyasamy Govind...; Nahid Akhtar Khan; Bindu Rani; Deepa Selvi Rani; Priyadharshini Se...; Vuskamalla Jyothi; Ajay Bahl; Calambur Narasimhan; Dharma Rakshak; Kumpati Premkumar; Madhu Khullar; Kumarasamy Thangaraj
• Keywords: Adult; Male; 0301 basic medicine; Adolescent; India; Sequence Analysis, DNA; Cardiomyopathy, Hypertrophic; Middle Aged; DNA, Mitochondrial; 3. Good health; Young Adult; 03 medical and health sciences; Haplotypes; Mutation; Humans; Female; Child; Genetic Association Studies; Metabolic Networks and Pathways; Aged

Hypertrophic cardiomyopathy (HCM) is a primary disorder, characterized by unexplained hypertrophy of the left ventricle that frequently involved in the inter-ventricular septum. Mitochondrial DNA (mtDNA) mutations and haplogroups have been found to be associated with several diseases. Therefore, in the present study, we have sequenced the complete mtDNA of 114 clinically well-characterized HCM patients to look for the role of mtDNA variations and haplogroups in HCM phenotype among Indian patients. Complete mtDNA analysis revealed 28 novel variations, 25 disease-associated and 50 private mutations. We found 13 (11.40%) HCM patients having novel non-synonymous and/or MT-tRNA variations, of which two (m.4797C>M and m.8728T>Y) were in heteroplasmic condition. In silico prediction showed that a few mutations are pathogenic, which may affect the energy production in the heart. Unlike some of the other studies, we did not find association of mitochondrial haplogroup with HCM.