Mitochondrial genome variations in idiopathic dilated cardiomyopathy

被引：12

作者：

Govindaraj, Periyasamy ^{[1
,2
,13
]}

Rani, Bindu ^{[3
,14
]}

Sundaravadivel, Pandarisamy ^{[1
]}

Vanniarajan, Ayyasamy ^{[1
,15
]}

Indumathi, K. P. ^{[4
]}

Khan, Nahid Akthar ^{[1
]}

Dhandapany, Perundurai S. ^{[5
,6
,7
]}

Rani, Deepa Selvi ^{[1
]}

Tamang, Rakesh ^{[1
,16
]}

Bahl, Ajay ^{[8
]}

Narasimhan, Calambur ^{[9
]}

Rakshak, Dharma ^{[10
]}

Rathinavel, Andiappan ^{[11
,12
]}

Premkumar, Kumpati ^{[2
]}

Khullar, Madhu ^{[3
]}

Thangaraj, Kumarasamy ^{[1
]}

机构：

[1] Ctr Cellular & Mol Biol, CSIR, Hyderabad 500007, Andhra Pradesh, India

[2] Bharathidasan Univ, Sch Basic Med Sci, Dept Biomed Sci, Tiruchirappalli, Tamil Nadu, India

[3] PGIMER, Dept Expt Med & Biotechnol, Chandigarh, India

[4] Kongu Arts & Sci Coll, Dept Biochem, Erode, India

[5] Inst Stem Cell Biol & Regenerat Med InStem, Ctr Cardiovasc Biol & Dis, Bengaluru, India

[6] Oregon Hlth & Sci Univ, Knight Cardiovasc Inst, Dept Med, Portland, OR 97201 USA

[7] Oregon Hlth & Sci Univ, Knight Cardiovasc Inst, Dept Mol & Med Genet, Portland, OR 97201 USA

[8] PGIMER, Dept Cardiol, Chandigarh, India

[9] CARE Hosp, Hyderabad, India

[10] Nizams Inst Med Sci, Hyderabad, India

[11] Madurai Med Coll, Dept Cardiothorac Surg, Madurai, Tamil Nadu, India

[12] Govt Rajaji Hosp, Madurai, Tamil Nadu, India

[13] Natl Inst Mental Hlth & Neurosci, Dept Neuropathol, Neuromuscular Lab, Bengaluru, India

[14] Smt Aruna Asaf Ali Govt Postgrad Coll, Kalka, India

[15] Aravind Med Res Fdn, Dept Mol Genet, Madurai, Tamil Nadu, India

[16] Univ Calcutta, Dept Zool, Kolkata, India

来源：

MITOCHONDRION | 2019年 / 48卷

关键词：

DCM; Mitochondria; mtDNA; Mutations; Haplogroups; Cybrids; MATERNALLY INHERITED CARDIOMYOPATHY; HEREDITARY OPTIC NEUROPATHY; POINT MUTATIONS; DNA MUTATIONS; CLINICAL EXPRESSION; HEARING-LOSS; DISEASE; GENE; MTDNA; CLASSIFICATION;

D O I：

10.1016/j.mito.2019.03.003

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页码：51 / 59

页数：9

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