Analysis of mitochondrial genome revealed a rare 50 bp deletion and substitutions in a family with hypertension

被引：9

作者：

Elango, Santhini ^{[2
]}

Govindaraj, Periyasamy ^{[1
]}

Vishwanadha, Vijaya Padma ^{[2
]}

Reddy, Alla Govardhana ^{[1
]}

Tamang, Rakesh ^{[1
]}

Muthusami, Uthiralingam ^{[3
]}

Kunnoth, Sreejith ^{[3
]}

Koyilil, Vijaya Kumar ^{[4
]}

Lakshman, MohanaKrishnan ^{[4
]}

Shanmugasundharam, N.

Singh, Lalji ^{[1
,5
]}

Thangaraj, Kumarasamy ^{[1
]}

机构：

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

[2] Bharathiar Univ, Dept Biotechnol, Sch Biotechnol & Genet Engn, Coimbatore, Tamil Nadu, India

[3] Loyola Coll, Dept Adv Zool & Biotechnol, Madras, Tamil Nadu, India

[4] Sri Ramakrishna Hosp, Dept Cardiol & Cardiothorac Surg, Coimbatore, Tamil Nadu, India

[5] Genome Fdn, Hyderabad, Andhra Pradesh, India

来源：

MITOCHONDRION | 2011年 / 11卷 / 06期

关键词：

Hypertension; Type; 2; diabetes; Coronary artery disease; Mutation; mtDNA; POLG; MTDNA COPY NUMBER; SECONDARY STRUCTURE; DNA MUTATIONS; COMPLEX-I; INHERITANCE; METABOLISM; SEQUENCE; DISEASE; GENE; MECHANISMS;

D O I：

10.1016/j.mito.2011.07.002

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We have sequenced the complete mtDNA of a family with hypertension (HT), type 2 diabetes (T2D) and coronary artery disease (CAD). Our analysis revealed two novel mutations (C3519T, G13204A); of which G13204A replaces valine to isoleucine. In silica analysis of a rare missense mutation (T8597C) showed a deleterious effect. We also observed a 50 bp deletion (m.298_347del50) in the hypervariable region II (HVSII) of all the individuals, who had a common maternal lineage. This (50 bp) deletion was not found in 17,785 individuals from different ethnic populations of India or in a variety of different disease phenotypes. We predict that the mtDNA mutations might be responsible for the HT. Analysis of POLG (polymerase gamma) gene revealed 14 variants which might be responsible for some of the mtDNA mutations seen in this family. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：878 / 885

页数：8

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