Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells
Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells
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DOI：
10.1038/sj.ejhg.5201216
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发表时间：
2004-09-01
影响因子：
5.2
通讯作者：
Taylor, RW
中科院分区：
文献类型：
--
作者：
McDonnell, MT;Schaefer, AM;Taylor, RW
3243A>G突变是最常见的线粒体DNA（mtDNA）突变之一，并且与许多临床表现相关，包括线粒体肌病、脑病、乳酸性酸中毒和中风样发作（MELAS）、进行性眼外肌麻痹（PEO）以及糖尿病和耳聋。血液中3243A>G突变的常规诊断是困难的，因为已知该组织中的突变水平随着时间的推移而降低，而在某些患者中可能不存在。我们直接比较了18例患者骨骼肌、血液和泌尿上皮细胞中3243A>G突变的水平，并观察到有丝分裂后肌肉和泌尿上皮（一种有丝分裂组织）中突变负荷之间的显著相关性。这些数据强烈支持使用尿上皮细胞作为3243A>G突变的非侵入性诊断中的选择组织。
The 3243A>G mutation is one of the most frequently observed mutations of mitochondrial DNA (mtDNA), and is associated with numerous clinical presentations including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), progressive external ophthalmoplegia (PEO) and diabetes and deafness. The routine diagnosis of the 3243A>G mutation in blood is difficult as mutation levels are known to decrease in this tissue over time, while in some patients it may be absent. We have directly compared the levels of the 3243A>G mutation in skeletal muscle, blood and urinary epithelial cells in 18 patients and observed a striking correlation between the mutation load in postmitotic muscle and urinary epithelium, a mitotic tissue. These data strongly support the use of urinary epithelial cells as the tissue of choice in the noninvasive diagnosis of the 3243A>G mutation.