Deoxyribonucleotides and disorders of mitochondrial DNA integrity

A Saada - DNA and cell biology, 2004 - liebertpub.com
DNA and cell biology, 2004liebertpub.com
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 …
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.
Mary Ann Liebert