title: Deoxyribonucleotides and disorders of mitochondrial DNA integrity.
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.
authors.affiliation: Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel. saada@szmc.org.il
authors.forename: Ann
authors.initials: A
authors.lastname: Saada
mesh_terms: D000818:Animals; D004272:DNA, Mitochondrial / Q000378:metabolism*; D003854:Deoxyribonucleotides / Q000378:metabolism*; D006801:Humans
chemical_list: D004272:DNA, Mitochondrial; D003854:Deoxyribonucleotides