NOVEL MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH CHINESE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

SUMMARY 1 Hypertrophic cardiomyopathy (HCM) is a genetic disorder that has a complex set of symptoms and potentially devastating consequences. Increasing evidence indicates that mitochondrial DNA (mtDNA) mutations are responsible for the development of HCM, but the mtDNA mutations appear to differ c...

Full description

Saved in:
Bibliographic Details
Published in:Clinical and experimental pharmacology & physiology 2009-09, Vol.36 (9), p.933-939
Main Authors: Wei, Yan-Ling, Yu, Chang-An, Yang, Peng, Li, Ai-Li, Wen, Jian-Yan, Zhao, Shu-Min, Liu, Hong-Xing, Ke, Yuan-Nan, Campbell, William, Zhang, Yi-Guan, Li, Xiao-Hui, Liao, Wen-Qiang
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Asian Continental Ancestry Group - genetics
Cardiomyopathy, Hypertrophic, Familial - diagnostic imaging
Cardiomyopathy, Hypertrophic, Familial - ethnology
Cardiomyopathy, Hypertrophic, Familial - genetics
Cardiomyopathy, Hypertrophic, Familial - metabolism
Cardiomyopathy, Hypertrophic, Familial - physiopathology
Case-Control Studies
Chi-Square Distribution
China - epidemiology
DNA Mutational Analysis
DNA, Mitochondrial
Electron Transport Complex I - genetics
Electron Transport Complex I - metabolism
Electron Transport Complex IV - genetics
Female
Gene Frequency
Genetic Predisposition to Disease
haplogroup Chinese
Haplotypes
Heredity
Humans
hypertrophic cardiomyopathy
Male
Middle Aged
mitochondrial DNA mutation
Mitochondrial Proteins - genetics
Mutation
Odds Ratio
Pedigree
Phenotype
Risk Assessment
Risk Factors
Ultrasonography
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:SUMMARY 1 Hypertrophic cardiomyopathy (HCM) is a genetic disorder that has a complex set of symptoms and potentially devastating consequences. Increasing evidence indicates that mitochondrial DNA (mtDNA) mutations are responsible for the development of HCM, but the mtDNA mutations appear to differ considerably among different populations and regions. 2 In the present study, three families with HCM were found and investigated: one in Shandong province and two in the Chongqing region of China. The entire mtDNA genome from the 18 affected and 66 unaffected family members was sequenced directly and the mtDNA mutations were determined. 3 The frequency of haplogroup M10 was significantly higher in family members with HCM (HCM group) than in unaffected family members (normal group). Three mtDNA mutations were found with a significantly higher frequency in affected individuals than in unaffected family individuals, namely G7697A in the cytochrome c oxidase subunit II gene (P 
ISSN:0305-1870
1440-1681
DOI:10.1111/j.1440-1681.2009.05183.x