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Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

Lookup NU author(s): Professor Roger Whittaker, Dr Andrew Schaefer, Professor Bobby McFarlandORCiD, Professor Robert Taylor, Professor Mark Walker, Emeritus Professor Doug Turnbull


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The m.3243A>G mitochondrial DNA mutation is well known to be associated with deafness and diabetes, and patients presenting with these clinical features are routinely screened for this mutation. We wanted to assess whether this is a suitable screening strategy. We retrospectively reviewed the clinical notes of 242 patients who had attended a special mitochondrial clinic in the preceding 25-year period. Of the total 29 patients with mitochondrial disease presenting with deafness and diabetes, only 21 would have been correctly diagnosed by screening for the m.3243A>G mutation in blood or urine. Of the remaining eight patients, only six had other features suggestive of mitochondrial disease. We recommend that all patients with the combination of deafness and diabetes presenting to diabetes clinics be screened for the m.3243A>G mutation. In those patients in whom this test is negative, we recommend referral to a specialist neuromuscular clinic for further investigation.

Publication metadata

Author(s): Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Diabetes Care

Year: 2007

Volume: 30

Issue: 9

Pages: 2238-2239

ISSN (print): 0149-5992

ISSN (electronic): 1935-5548

Publisher: American Diabetes Association


DOI: 10.2337/dc07-0466

PubMed id: 17540956


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Funder referenceFunder name
074454Wellcome Trust
G108/539Medical Research Council