Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases.
Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases.
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泌尿细胞中野生型线粒体 DNA 拷贝数作为诊断线粒体疾病严重程度的有用标记
DOI：
10.1371/journal.pone.0067146
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Qi Y
中科院分区：
文献类型：
--
作者：
Liu H;Ma Y;Fang F;Zhang Y;Zou L;Yang Y;Zhu S;Wang S;Zheng X;Pei P;Li L;Wu H;Xiao Y;Xu Y;Wang L;Cao Y;Pan H;Qi Y
具有mtDNA点突变的疾病中的基因-表型关系仍然难以捉摸。保持野生型mtDNA拷贝数对线粒体正常氧化功能至关重要。本研究探讨了A3243G突变患者血液和尿液中线粒体DNA拷贝数与疾病严重程度的关系。我们招募了115名A3243G患者，其中28名无症状，42名无症状，45名多症状。A3243G患者mtDNA总拷贝数增加，但与突变型mtDNA比例无关。相关分析显示，尿液中野生型mtDNA拷贝数是影响疾病严重程度的最重要因素，其次是尿液中突变mtDNA所占比例和血液中突变mtDNA所占比例。尿中野生型拷贝数与癫痫、肌病、学习障碍、头痛和中风等几种主要症状的出现频率呈负相关，而与听力损失和糖尿病的出现频率呈正相关。A3243G患者除尿液中突变mtDNA所占比例外，尿液中野生型拷贝数也是判断病情严重程度的重要指标。
The genotype-phenotype relationship in diseases with mtDNA point mutations is still elusive. The maintenance of wild-type mtDNA copy number is essential to the normal mitochondrial oxidative function. This study examined the relationship between mtDNA copy number in blood and urine and disease severity of the patients harboring A3243G mutation. We recruited 115 A3243G patients, in which 28 were asymptomatic, 42 were oligo-symptomatic, and 45 were poly-symptomatic. Increase of total mtDNA copy number without correlation to the proportion of mutant mtDNA was found in the A3243G patients. Correlation analyses revealed that wild-type mtDNA copy number in urine was the most important factor correlated to disease severity, followed by proportion of mutant mtDNA in urine and proportion of mutant mtDNA in blood. Wild-type copy number in urine negatively correlated to the frequencies of several major symptoms including seizures, myopathy, learning disability, headache and stroke, but positively correlated to the frequencies of hearing loss and diabetes. Besides proportion of mutant mtDNA in urine, wild-type copy number in urine is also an important marker for disease severity of A3243G patients.
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影响因子：
2
作者：
Mehrazin, Mahsa;Shanske, Sara;Kaufmann, Petra;Wei, Ying;Coku, Jorida;Engelstad, Kristin;Naini, Ali;De Vivo, Darryl C.;DiMauro, Salvatore
通讯作者：
DiMauro, Salvatore
影响因子：
7.2
作者：
Guillausseau, PJ;Dubois-Laforgue, D;Timsit, J
通讯作者：
Timsit, J
影响因子：
3.5
作者：
Liu, CS;Cheng, WL;Wei, YH
通讯作者：
Wei, YH
影响因子：
9.8
作者：
Elliott, Hannah R.;Samuels, David C.;Eden, James A.;Relton, Caroline L.;Chinnery, Patrick F.
通讯作者：
Chinnery, Patrick F.
影响因子：
9.3
作者：
Bai, RK;Wong, LJC
通讯作者：
Wong, LJC