Deoxynucleoside therapy for diseases caused by unbalanced nucleotide pools, including mitochondrial DNA depletion syndrome

摘要

The present invention relates to those diseases for human genetic diseases, specifically characterized by unbalanced nucleotide pools, more specifically mitochondrial DNA depletion syndrome, more specifically thymidine kinase 2 (TK2) deficiency In general to pharmacological treatments for. Pharmacological treatment involves the administration of at least one deoxynucleoside, or a mixture thereof. For the treatment of TK2 deficiency, pharmacological treatment includes the administration of either deoxythymidine (dT) or deoxycytidine (dC), or mixtures thereof. This administration of deoxynucleosides is applicable to other disorders of an unbalanced nucleotide pool, particularly those seen with mitochondrial DNA depletion syndrome. [Selection] Figure 1