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Related Experiment Videos

Mitochondrial DNA mutations in human disease.

S DiMauro1, E A Schon

  • 1College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA. sd12@columbia.edu

American Journal of Medical Genetics
|October 2, 2001
PubMed
Summary

Mitochondrial DNA (mtDNA) mutations cause numerous human diseases. While genetic causes are increasingly understood, the underlying pathogenesis of these mitochondrial diseases remains largely unclear, despite advances in diagnosis and animal models.

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Area of Science:

  • Genetics
  • Molecular Medicine
  • Human Diseases

Background:

  • Mitochondrial DNA (mtDNA) harbors numerous pathogenic mutations.
  • Over 100 point mutations and rearrangements are linked to human diseases.
  • These diseases can be multisystemic or tissue-specific.

Purpose of the Study:

  • Review principles of mitochondrial genetics.
  • Discuss disorders from mutations affecting mitochondrial protein synthesis and coding genes.
  • Highlight progress and remaining challenges in understanding mtDNA mutation-related diseases.

Main Methods:

  • Review of scientific literature on mitochondrial genetics.
  • Analysis of disorders caused by mtDNA mutations.
  • Examination of progress in prenatal diagnosis, epidemiology, and animal models.

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Main Results:

  • Significant progress in identifying genetic causes of mtDNA disorders.
  • Over 100 pathogenic point mutations and rearrangements identified.
  • Pathogenesis of mitochondrial diseases is only partially understood.

Conclusions:

  • Mitochondrial DNA mutations are a significant cause of human disease.
  • Understanding of etiology has advanced, but pathogenesis requires further research.
  • Progress in prenatal diagnosis, epidemiology, and animal models aids research.