Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells

被引：70

作者：

McDonnell, MT ^{[1
]}

Schaefer, AM ^{[1
]}

Blakely, EL ^{[1
]}

McFarland, R ^{[1
]}

Chinnery, PF ^{[1
]}

Turnbull, DM ^{[1
]}

Taylor, RW ^{[1
]}

机构：

[1] Newcastle Univ, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2004年 / 12卷 / 09期

关键词：

mitochondrial DNA; MELAS; 3243A > G mutation; noninvasive diagnosis;

D O I：

10.1038/sj.ejhg.5201216

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：778 / 781

页数：4

共 21 条

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