Deoxyribonucleotides and disorders of mitochondrial DNA integrity

DNA Cell Biol. 2004 Dec;23(12):797-806. doi: 10.1089/dna.2004.23.797.

Abstract

Mitochondrial DNA (mtDNA) depends on numerous nuclear encoded factors and a constant supply of deoxyribonucleoside triphosphates (dNTP), for its maintenance and replication. The function of proteins involved in nucleotide metabolism is perturbed in a heterogeneous group of disorders associated with depletion, multiple deletions, and mutations of the mitochondrial genome. Disturbed homeostasis of the mitochondrial dNTP pools are likely the underlying cause. Understanding of the biochemical and molecular basis of these disorders will promote the development of new therapeutic approaches. This article reviews the current knowledge of deoxyribonucleotide metabolism in relation to disorders affecting mtDNA integrity.

Publication types

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

MeSH terms

  • Animals
  • DNA, Mitochondrial / metabolism*
  • Deoxyribonucleotides / metabolism*
  • Humans

Substances

  • DNA, Mitochondrial
  • Deoxyribonucleotides