Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism

Sammanfattning

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.

Nyckelord

mitochondrial DNA depletion syndrome; thymidine kinase2; deoxyguanosine kinase; mtDNA synthesis

Publicerad i

Nucleosides, Nucleotides and Nucleic Acids
2008, volym: 27, nummer: 6-7, sidor: 800-808
Utgivare: TAYLOR & FRANCIS INC

SLU författare

• Eriksson, Staffan

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    

• Wang, Liya

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    

UKÄ forskningsämne

Husdjursvetenskap
Veterinärmedicin

Publikationens identifierare

• DOI: https://doi.org/10.1080/15257770802146197

Permanent länk till denna sida (URI)

https://res.slu.se/id/publ/20798