The epidemiology of pathogenic mitochondrial DNA mutations

TLDR

During the past decade, many patients with neurological disorders due to mitochondrial DNA mutations have been described, yet the extent and spectrum of mtDNA disease in the general population remain undefined. The study aimed to define the genetic defect in adults with suspected mtDNA disease. Adults with suspected mtDNA disease in the North East of England were referred to a single neurology center for investigation over a 10‑year period (1990‑1999), and prevalence calculations were performed for 1997 to estimate minimum point prevalence and risk in working‑age adults and children. The minimum prevalence of mtDNA disease was 6.57 per 100,000 working‑age adults, 7.59 per 100,000 at‑risk adults and children, and 12.48 per 100,000 overall, indicating pathogenic mtDNA mutations are a common cause of chronic morbidity and have resource implications for supportive care and genetic counseling. Published in Annals of Neurology 2000;48:188–193.

Abstract

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 genetic 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 genetic counseling. Ann Neurol 2000;48:188–193