Mitochondrial genome variations in idiopathic dilated cardiomyopathy

Periyasamy Govindaraj; Bindu Rani; Pandarisamy Sundaravadivel; Ayyasamy Vanniarajan; K P Indumathi; Nahid Akthar Khan; Perundurai S Dhandapany; Deepa Selvi Rani; Rakesh Tamang; Ajay Bahl; Calambur Narasimhan; Dharma Rakshak; Andiappan Rathinavel; Kumpati Premkumar; Madhu Khullar; Kumarasamy Thangaraj

doi:10.1016/j.mito.2019.03.003

Mitochondrial genome variations in idiopathic dilated cardiomyopathy

Mitochondrion. 2019 Sep:48:51-59. doi: 10.1016/j.mito.2019.03.003. Epub 2019 Mar 22.

Authors

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

Affiliations

¹ CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India; Department of Biomedical Science, School of Basic Medical Sciences, Bharathidasan University, Tiruchirappalli, India.
² Department of Experimental Medicine and Biotechnology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
³ CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
⁴ Department of Biochemistry, Kongu Arts and Science College, Erode, India.
⁵ Centre for Cardiovascular Biology and disease, Institute of Stem Cell Biology and Regenerative Medicine(inStem), Bengaluru, India; The Knight Cardiovascular Institute, Departments of Medicine, Molecular and Medical Genetics, Oregon Health and Science University, Portland, USA.
⁶ Department of Cardiology, PGIMER, Chandigarh, India.
⁷ CARE Hospitals, Hyderabad, India.
⁸ Nizam's Institute of Medical Sciences, Hyderabad, India.
⁹ Department of Cardio-Thoracic Surgery, Madurai Medical College & Government Rajaji hospital, Madurai, India.
¹⁰ Department of Biomedical Science, School of Basic Medical Sciences, Bharathidasan University, Tiruchirappalli, India.
¹¹ CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India. Electronic address: thangs@ccmb.res.in.

PMID: 30910572
DOI: 10.1016/j.mito.2019.03.003

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.

Keywords: Cybrids; DCM; Haplogroups; Mitochondria; Mutations; mtDNA.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Asian People / genetics
Cardiomyopathy, Dilated / genetics*
Child
DNA, Mitochondrial / genetics
Female
Genetic Variation / genetics*
Genome, Mitochondrial / genetics*
Hearing Loss / genetics
Humans
Male
Middle Aged
Mitochondria / genetics*
Young Adult

Substances

DNA, Mitochondrial