The epidemiology of pathogenic mitochondrial DNA mutations

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 Engl and were referred to a single neurology center for investigation over the 1 0-year period from 1990 to 1999 inclusive. We defined the genetic defect in these individuals. For the midyear period of 1997, we calculated the minim um 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 defe cts 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 i n the adult and child population either had mtDNA disease or were at risk o f developing mtDNA disease. These results reflect the minimum prevalence of mtDNA disease and pathogenic mtDNA mutations and demonstrate that pathogen ic mtDNA mutations are a common cause of chronic morbidity. These findings have resource implications, particularly for supportive care and genetic co unseling.