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The epidemiology of pathogenic mitochondrial DNA mutations

Lookup NU author(s): Professor Patrick Chinnery, Dr Margaret Johnson, Dr Theresa Wardell, Dr Rajinder Singh-Kler, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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During the past decade, there have been many descriptions of patients with neurological disorders due to mitochondrial DNA (mtDNA) mutations, but the extent and spectrum of mtDNA disease in the general population have not yet been defined. Adults with suspected mtDNA disease in the North East of England were referred to a single neurology center for investigation over the 10-year period from 1990 to 1999 inclusive. We defined the generic defect in these individuals. For the midyear period of 1997, we calculated the minimum point prevalence of mtDNA disease in the adults of working age (>16-<60 years old for female subjects and <65 years old for male subjects) and the minimum prevalence of adults and children (<60 years for female subjects, <65 years for male subjects) at risk of developing mtDNA disease. mtDNA defects caused disease in 6.57 per 100,000 individuals in the adult population of working age, and 7.59 per 100,000 unaffected adults and children were at risk of developing mtDNA disease. Overall, 12.48 per 100,000 individuals in the adult and child population either had mtDNA disease or were at risk of developing mtDNA disease. These results reflect the minimum prevalence of mtDNA disease and pathogenic mtDNA mutations and demonstrate that pathogenic mtDNA mutations are a common cause of chronic morbidity. These findings have resource implications, particularly for supportive care and generic counseling.

Publication metadata

Author(s): Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2000

Volume: 48

Issue: 2

Pages: 188-193

Print publication date: 01/01/2000

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: Wiley-Blackwell Publishing


DOI: 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P

PubMed id: 10939569


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