Mitochondrial DNA variations associated with hypertrophic cardiomyopathy.
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.
Department of Biomedical Science, School of Basic Medical Sciences, Bharathidasan University, Tiruchirappalli, India.
Periyasamy
P
Govindaraj
CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
Nahid Akhtar
NA
Khan
Department of Experimental Medicine and Biotechnology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Bindu
B
Rani
CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
Deepa Selvi
DS
Rani
CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
Priyadharshini
P
Selvaraj
CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
Vuskamalla
V
Jyothi
Department of Cardiology, PGIMER, Chandigarh, India.
Ajay
A
Bahl
CARE Hospital, Hyderabad, India.
Calambur
C
Narasimhan
Nizam's Institute of Medical Sciences, Hyderabad, India.
Dharma
D
Rakshak
Department of Biomedical Science, School of Basic Medical Sciences, Bharathidasan University, Tiruchirappalli, India.
Kumpati
K
Premkumar
Department of Experimental Medicine and Biotechnology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Madhu
M
Khullar
CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India. Electronic address: thangs@ccmb.res.in.
Kumarasamy
K
Thangaraj
D000293:Adolescent; D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002648:Child; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D007194:India; D008297:Male; D053858:Metabolic Networks and Pathways / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA; D055815:Young Adult
D004272:DNA, Mitochondrial
HCM; Haplogroup; Mitochondria; Mutation; mtDNA