Reference Intervals of Mitochondrial DNA Copy Number in Peripheral Blood for Chinese Minors and Adults  

作　　者：Chang-Yu Xia Yu Liu Hui-Rong Yang Hong-Yun Yang Jing-Xia Liu Yi-Nan Ma Yu Qi 

机构地区：[1]Department of Central Laboratory, Peking University First Hospital, Beijing 100034, China [2]Department of Clinical Laboratory, Peking University First Hospital, Beijing 100034, China

出　　处：《Chinese Medical Journal》2017年第20期2435-2440,共6页中华医学杂志（英文版）

基　　金：This study was supported by grants from the National Natural Science Foundation of China （No. 81271256 and No. 81471153） and Beijing Municipal Science and Technology Commission （No. Z 131107002213062）.

摘　　要：Background： Mitocbondrial DNA （mtDNA） content measured by different techniques cannot be compared between studies, and age- and tissue-related control values are hardly available. In the present study, we aimed to establish the nonllal reference range of mtDNA copy number in the Chinese population. Methods： Two healthy cohorts of 200 Chinese minors （0.1 18.0 years） and 200 adults （18.0-88.0 years） were recruited. Then, they were further categorized into eight age groups. The absolute mtDNA copy number per cell was measured by a quantitative real-time polymerase chain reaction. We subsequently used this range to evaluate mtDNA content in tbur patients （0.5-4.0 years） with molecularly proven mitochondrial depletion syndromes （MDSs） and 83 cases of mitochondrial disease patients harboring the m.3243A〉G mutation. Results： The reference range ofmtDNA copy number in peripheral blood was 175-602 copies/cell （mean： 325 copies/cell） in minors and 164 500 copies/cell （mean： 287 copies/cell） in adults. There was a decreasing trend in mtDNA copy number in blood with increasing age, especially in 0-2-year-old and 〉50-year-old donors. The mean mtDNA copy number level among the mitochondrial disease patients with m.3243A〉G mutation was significantly higher than that ofhealtby controls. The intDNA content ofPOLG, DGUOK, TK2, and SUCLA2 genes in blood samples from MDS patients was reduced to 25%, 38%, 32%, and 24%, respectively. Conclusions： We primarily establish the refeerence intervals of mtDNA copy number, which might contribute to the clinical diagnosis and monitoring of mitochondrial disease.Background： Mitocbondrial DNA （mtDNA） content measured by different techniques cannot be compared between studies, and age- and tissue-related control values are hardly available. In the present study, we aimed to establish the nonllal reference range of mtDNA copy number in the Chinese population. Methods： Two healthy cohorts of 200 Chinese minors （0.1 18.0 years） and 200 adults （18.0-88.0 years） were recruited. Then, they were further categorized into eight age groups. The absolute mtDNA copy number per cell was measured by a quantitative real-time polymerase chain reaction. We subsequently used this range to evaluate mtDNA content in tbur patients （0.5-4.0 years） with molecularly proven mitochondrial depletion syndromes （MDSs） and 83 cases of mitochondrial disease patients harboring the m.3243A〉G mutation. Results： The reference range ofmtDNA copy number in peripheral blood was 175-602 copies/cell （mean： 325 copies/cell） in minors and 164 500 copies/cell （mean： 287 copies/cell） in adults. There was a decreasing trend in mtDNA copy number in blood with increasing age, especially in 0-2-year-old and 〉50-year-old donors. The mean mtDNA copy number level among the mitochondrial disease patients with m.3243A〉G mutation was significantly higher than that ofhealtby controls. The intDNA content ofPOLG, DGUOK, TK2, and SUCLA2 genes in blood samples from MDS patients was reduced to 25%, 38%, 32%, and 24%, respectively. Conclusions： We primarily establish the refeerence intervals of mtDNA copy number, which might contribute to the clinical diagnosis and monitoring of mitochondrial disease.

关 键 词：Mitochondrial Depletion Syndromes Mitochondrial Disease： Mitochondrial DNA： Reference Range 

分 类 号：Q959.468[生物学—动物学] Q987