Reference Intervals of Mitochondrial DNA Copy Number in Peripheral Blood for Chinese Minors and Adults.
Reference Intervals of Mitochondrial DNA Copy Number in Peripheral Blood for Chinese Minors and Adults.
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中国未成年人和成年人外周血线粒体DNA拷贝数参考区间
DOI：
10.4103/0366-6999.216395
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发表时间：
2017-10-20
影响因子：
6.1
通讯作者：
Qi Y
中科院分区：
文献类型：
--
作者：
Xia CY;Liu Y;Yang HR;Yang HY;Liu JX;Ma YN;Qi Y
背景：不同技术测量的线粒体DNA （mtDNA）含量无法在研究之间进行比较，并且很难获得与年龄和组织相关的控制值。在本研究中，我们旨在建立中国人群mtDNA拷贝数的正常参考范围。方法：招募200名中国未成年人（0.1 ~ 18.0岁）和200名成人（18.0 ~ 88.0岁）。然后，他们被进一步分为八个年龄组。每个细胞的绝对mtDNA拷贝数通过定量实时聚合酶链反应测定。随后，我们使用该范围评估了4例（0.5-4.0岁）分子证实的线粒体耗损综合征（mds）患者和83例携带m.3243A>G突变的线粒体疾病患者的mtDNA含量。结果：未成年人外周血mtDNA拷贝数参考范围为175 ~ 602拷贝/细胞（平均325拷贝/细胞），成人外周血mtDNA拷贝数参考范围为164 ~ 500拷贝/细胞（平均287拷贝/细胞）。血液中mtDNA拷贝数随年龄增长呈下降趋势，特别是0 ~ 2岁和50 ~ 50岁的献血者。m.3243A>G突变线粒体病患者的平均mtDNA拷贝数水平显著高于健康对照组。MDS患者血样中POLG、DGUOK、TK2和SUCLA2基因的mtDNA含量分别降至25%、38%、32%和24%。结论：初步建立了线粒体dna拷贝数的参考区间，可能有助于线粒体疾病的临床诊断和监测。
Background: Mitochondrial 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 normal 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 four 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 of mtDNA 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 of healthy controls. The mtDNA content of POLG, 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 reference intervals of mtDNA copy number, which might contribute to the clinical diagnosis and monitoring of mitochondrial disease.