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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.
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
URL: http://dx.doi.org/10.1038/sj.ejhg.5201216
DOI: 10.1038/sj.ejhg.5201216
PubMed id: 15199381
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