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The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

Lookup NU author(s): Dr John Blackwood, Professor Roger Whittaker, Dr Charlotte Alston, Emeritus Professor Doug Turnbull, Professor Robert Taylor


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Patients with mitochondrial DNA disease are amongst the most challenging to diagnose and manage given the striking phenotypic and genetic heterogeneity, which characterise these conditions. Recently, we and others have demonstrated the m.3243A>G mutation, one of the most common mitochondrial DNA pathogenic mutations, is present at clinically relevant levels in urinary epithelium, thus providing a practical, non-invasive test for diagnosis and mutation screening. In this study we further evaluate the use of these cells in detecting the m.3243A>G mutation, other mtDNA tRNA gene point mutations including the m.8344A>G mutation and single large-scale mtDNA deletions. We observe a robust relationship between m.3243A>G levels in urothelial cells and clinically affected tissues that does not change with time. Conversely, single large-scale mtDNA deletions can be detected in urothelial cells, with higher levels present in younger patients with more severe disease, but generally mtDNA deletion levels are not representative of those seen in a clinically affected tissue. Our results have implications for the diagnosis, management and counselling of families with mtDNA disease. (C) 2010 Elsevier Inc. All rights reserved.

Publication metadata

Author(s): Blackwood JK, Whittaker RG, Blakely EL, Alston CL, Turnbull DM, Taylor RW

Publication type: Article

Publication status: Published

Journal: Biochemical and Biophysical Research Communications

Year: 2010

Volume: 393

Issue: 4

Pages: 740-745

Print publication date: 18/02/2010

ISSN (print): 0006-291X

ISSN (electronic): 1090-2104

Publisher: Academic Press


DOI: 10.1016/j.bbrc.2010.02.072


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