Journal
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS
Volume 27, Issue 6-7, Pages 800-808Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/15257770802146197
Keywords
mitochondrial DNA depletion syndrome; thymidine kinase2; deoxyguanosine kinase; mtDNA synthesis
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Mitochondrial DNA depletion syndrome (MDS), a reduction of mitochondrial DNA copy number, often affects muscle or liver. Mutations in enzymes of deoxyribonucleotide metabolism give MDS, for example, the mitochondrial thymidine kinase 2 (TK2) and deoxyguanosine kinase (dGK) genes. Sixteen TK2 and 22 dGK alterations are known. Their characteristics and symptoms are described. Levels of five key deoxynucleotide metabolizing enzymes in mouse tissues were measured. TK2 and dGK levels in muscles were 5- to 10-fold lower than other nonproliferating tissues and 100-fold lower compared to spleen. Each type of tissue apparently relies on de novo and salvage synthesis of DNA precursors to varying degrees.
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