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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Fig. 4

Pharmacological mechanism of nucleoside therapy in TK2d. MT1621 (dC/dT) deoxynucleosides drive production of dTMP and dCMP from the enzymes thymidine kinase 1 (TK1) and deoxycytidine kinase (dCK), respectively, which cross the mitochondrial membrane to provide substrate for dTTP and deoxycytidine triphosphate (dCTP) production in mtDNA synthesis and replication [23]. Both mechanisms help to restore the available pool of mtDNA for oxidative phosphorylation and energy production

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172