Deoxynucleoside Salvage Enzymes and Tissue Specific Mitochondrial DNA Depletion

Abstract

Adequate mitochondrial DNA (mtDNA) copies are required for normal mitochondria function and reductions in mtDNA copy number due to genetic alterations cause tissue-specific mtDNA depletion syndrome (MDS). There are eight nuclear genes, directly or indirectly involved in mtDNA replication and mtDNA precursor synthesis, which have been identified as the cause of MDS. However, the tissue specific pathology of these nuclear gene mutations is not well understood. Here, mtDNA synthesis, mtDNA copy number control, and mtDNA turnover, as well as the synthesis of mtDNA precursors in relation to the levels of salvage enzymes are discussed. The question why MDS caused by TK2 and p53R2 mutations are predominantly muscle specific while dGK deficiency affected mainly liver will be addressed.

Keywords

Mitochondrial DNA depletion syndrome; mtDNA maintenance; TK2; dGK and p53R2

Published in

Nucleosides, Nucleotides and Nucleic Acids
2010, volume: 29, number: 4-6, pages: 370-381
Publisher: TAYLOR & FRANCIS INC

SLU Authors

• Wang, Liya

  • Department of Animal Biosciences, Swedish University of Agricultural Sciences
    

UKÄ Subject classification

Microbiology

Publication identifier

• DOI: https://doi.org/10.1080/15257771003729732

Permanent link to this page (URI)

https://res.slu.se/id/publ/59804