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

Lookup NU author(s): Dr Andrew Schaefer, Professor Bobby McFarlandORCiD, Professor Patrick Chinnery, Emeritus Professor Doug Turnbull, Professor Robert Taylor


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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 this 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. © 2004 Nature Publishing Group All rights reserved.

Publication metadata

Author(s): McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2004

Volume: 12

Issue: 9

Pages: 778-781

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/sj.ejhg.5201216

PubMed id: 15199381


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