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

共 50 条

[31] The mitochondrial brain: From mitochondrial genome to neurodegeneration
Turnbull, Helen E.
Lax, Nichola Z.
Diodato, Daria
Ansorge, Olaf
Turnbull, Doug M.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2010, 1802 (01): : 111 - 121
[32] Whole mitochondrial genome analysis in Chinese patients with keratoconus
Xu, Liyan
Yang, Kaili
Fan, Qi
Zhao, Dongqing
Pang, Chenjiu
Ren, Shengwei
MOLECULAR VISION, 2021, 27 : 270 - 282
[33] Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy
Li, YY
Maisch, B
Rose, ML
Hengstenberg, C
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 1997, 29 (10) : 2699 - 2709
[34] Fatal dilated cardiomyopathy associated with a mitochondrial DNA deletion
Moslemi, AR
Selimovic, N
Bergh, CH
Oldfors, A
CARDIOLOGY, 2000, 94 (01) : 68 - 71
[35] Anti-mitochondrial Antibodies in Patients with Dilated Cardiomyopathy
Yokokawa, Tetsuro
Yoshihisa, Akiomi
Misaka, Tomofumi
Sato, Takamasa
Kaneshiro, Takashi
Oikawa, Masayoshi
Kobayashi, Atsushi
Yamaki, Takayoshi
Kunii, Hiroyuki
Takeishi, Yasuchika
INTERNAL MEDICINE, 2021, 60 (02) : 201 - 208
[36] Intestinal microbiota and metabolome perturbations in ischemic and idiopathic dilated cardiomyopathy
Wang, Yusheng
Xie, Yandan
Mahara, Gehendra
Xiong, Yanling
Xiong, Yalan
Zheng, Qifang
Chen, Jianqin
Zhang, Wei
Zhou, Honghao
Li, Qing
JOURNAL OF TRANSLATIONAL MEDICINE, 2024, 22 (01)
[37] Is the Mechanism of Idiopathic Dilated Cardiomyopathy Coronary Related After All?
Iakobishvili, Zaza
Lev, Eli I.
CARDIOLOGY, 2011, 119 (04) : 204 - 205
[38] The mitochondrial genome in aging and senescence
Lauri, Andrea
Pompilio, Giulio
Capogrossi, Maurizio C.
AGEING RESEARCH REVIEWS, 2014, 18 : 1 - 15
[39] Association analysis between ARG1 gene polymorphisms and idiopathic dilated cardiomyopathy
Shah, Syed Fawad Ali
Akram, Sumaira
Iqbal, Tahir
Nawaz, Sadia
Rafiq, Muhammad Arshad
Hussain, Sabir
MEDICINE, 2019, 98 (47)
[40] The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
Moller, Daniel Vega
Andersen, Paal Skytt
Hedley, Paula
Ersboll, Mads Kristian
Bundgaard, Henning
Moolman-Smook, Johanna
Christiansen, Michael
Kober, Lars
EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (10) : 1241 - 1249

← 1 2 3 4 5 →