Human mitochondrial DNA diseases

Adv Drug Deliv Rev. 2001 Jul 2;49(1-2):27-43. doi: 10.1016/s0169-409x(01)00124-7.


The mitochondrial encephalomyopathies are a genetically heterogeneous group of disorders associated with impaired oxidative phosphorylation. Patients may exhibit a wide range of clinical symptoms and experience significant morbidity and mortality. There is currently no curative treatment. At present the majority of genetically defined mitochondrial encephalomyopathies are caused by mutations in mitochondrial DNA. The underlying molecular mechanisms and the complex relationship between genotype and phenotype in these mitochondrial DNA diseases remain only partially understood. We describe the key features of mitochondrial DNA genetics and outline some of the common disease phenotypes associated with mtDNA defects. A classification of pathogenic mitochondrial DNA point mutations which may have therapeutic implications is outlined.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Genes, rRNA / genetics*
  • Humans
  • Mitochondrial Encephalomyopathies / genetics*
  • Phenotype
  • Point Mutation / genetics*
  • RNA, Transfer / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer