Mitochondrial Dysfunctions Caused by the tRNAMet/tRNAGln A4401G Mutation May be Involved in Maternal

• 作 者: He Yiqun Shi Suxue Xu Meifen Xue Ling Yu Han Geng Junwei Lu Zhongqiu Guan Minxin
• 机 构: Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Gen
• 出 处: 第十二次全国医学遗传学学术会议
• 发表日期: 2013年4期
• 关键词: essential hypertension mitochondrial DNA tRNA mutation

　　Objective in order to establish the genetic factor of hypertension associated wtih mitochondrial DNA mutations,we screened a known mitochondrial tRNAMet/tRNAGln A4401G mutation and established the immortalized lymphoblastoid cell lines.This mutation was a risk factor for maternally inherited hypertension which caused mitochondrial dysfunction.Methods we reported here the clinical, genetic, and molecular characterization of the Chinese pedigree.Results two of four matrilineal relatives in the family exhibited the variable degree of essential hypertension.Sequence analysis of the complete mitochondrial DNA in this pedigree identified the known homoplasmic A4401G mutation and 36 other variants belonging to the Asian haplogroup C.The rate of ROS levels increased ~34% in 2 lymphoblastoid cell lines carrying the A4401G mutation compared with 2 control cell lines lacking this mutation.And the membrane potential levels of the cell lines increased ~20%.Conclusion these data suggested that mitochondrial dysfunctions, caused by the A4401G mutation, were involved in the development of hypertension in the Chinese pedigree.