Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree

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• 作者：Zhong Liu ; Yanrui Song ; Shulian Gu ; Xiangyu He ; Xiaoyu Zhu ; Yaoyao Shen ; Bifeng Wu ; Wei Wang ; Shishi Li ; Pingping Jiang ; Jianhua Lu ; Wendong Huang ; Qingfeng Yan
• 关键词：HCM ; hypertrophic cardiomyopathy ; mtDNA ; mitochondrial DNA ; ECHO ; echocardiography ; ECG ; electrocardiography ; MLVWT ; maximum LV wall thickness ; LVOTG ; LV outflow tract gradient ; EF ; ejection fraction ; IVS ; interventricular septum ; LPW ; left posterior wall
• 刊名：Gene
• 出版年：2012
• 出版时间：15 September, 2012
• 年：2012
• 卷：506
• 期：2
• 页码：339-343
• 全文大小：572 K

文摘

Hypertrophic cardiomyopathy is a primary disorder characterized by asymmetric thickening of the septum and left ventricular wall, which affects 1 in 500 individuals in the general population. Mutations in mitochondrial DNA have been found to be one of the most important causes of hypertrophic cardiomyopathy. Here we report the clinical, genetic and molecular characterization of a Han Chinese family with a likely maternally transmitted hypertrophic cardiomyopathy. Four (2 men/2 women) of 5 matrilineal relatives in this 3-generation family exhibited the variable severity and age at onset of 44 to 79 years old. Sequence analysis of the entire mitochondrial DNA in this pedigree identified the known homoplasmic ND5 12338T>C variant. This mitochondrial DNA haplogroup belongs to the Eastern Asian F2a. The 12338T>C variant, highly evolutionarily conserved, resulted in the replacement of the translation initiating methionine with a threonine, shortening the ND5 polypeptide by 2 amino acids. The occurrence of ND5 12338T>C variant exclusively in maternal members of this Chinese family suggested that the 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy. Our findings will provide theoretical basis for genetic counseling of maternally inherited hypertrophic cardiomyopathy.