Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population

Neurology. 2005 Mar 22;64(6):976-81. doi: 10.1212/01.WNL.0000154518.31302.ED.


Background: Large-scale mitochondrial DNA (mtDNA) deletions are associated with clinical conditions such as Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia in adults and Pearson syndrome in children. Reported case series have suggested that deletions are not uncommon in the population, but their prevalence has not been documented.

Methods: The authors ascertained patients with clinical features associated with mtDNA deletions in a defined adult population in northern Finland. Buccal epithelial samples were requested from each patient fulfilling the selection criteria, and full-length mtDNA was amplified using the long PCR method. Deletion breakpoints were identified using sequencing. Patients with deletions were examined clinically.

Results: The authors identified four patients with single large-scale mtDNA deletions. The prevalence of deletions was calculated to be 1.6/100,000 in the adult population in the province of Northern Ostrobothnia (0.0 to 3.2; 95% CI). Analysis of incident cases from a neighboring province revealed two patients with deletions and yielded a similar population frequency.

Conclusions: The frequency of large-scale mitochondrial DNA deletions is similar among populations, suggesting that there is a constant rate of new deletions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain / metabolism
  • Brain / pathology
  • Brain / physiopathology
  • Cohort Studies
  • Cross-Sectional Studies
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Finland / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Kearns-Sayre Syndrome / epidemiology
  • Kearns-Sayre Syndrome / genetics*
  • Male
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics
  • Ophthalmoplegia, Chronic Progressive External / epidemiology
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Prevalence
  • Sequence Deletion / genetics*
  • Syndrome


  • DNA, Mitochondrial

Associated data

  • OMIM/258450
  • OMIM/530000
  • OMIM/557000