Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

Abstract excerpt

Autosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP) pools. To bypass Tk2 deficiency, we administered deoxycytidine and deoxythymidine monophosphates (dCMP+dTMP) to the Tk2 H126N (Tk2(-/-)) knock-in mouse model from postnatal day 4, when mutant...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Biochemical and Molecular Research
• Share to Cancer, Hypoxia, and Metabolism
• Share to Glycogen Storage Diseases and Myoclonus