FUNDACIO HOSPITAL UNIVERSITARI VALL DHEBRON-INSTITUT DE RECERCA;FUNDACIO HOSPITAL UNIVERSITARI VALL D'HEBRON-INSTITUT DE RECERCA;THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK
发明人:
HIRANO, MICHIO,GARONE, CATERINA,MARTI, RAMON
申请号：
CA2989653
公开号：
CA2989653A1
申请日:
2016.06.17
申请国别(地区):
CA
年份:
2016
代理人:
摘要：
The invention relates generally to a pharmacological therapy for human geneticdiseases, specifically thosecharacterized by unbalance nucleotide pools, more specifically mitochondrialDNA depletion syndromes, and more specifically,thymidine kinase 2 (TK2) deficiency. The pharmacological therapy involves theadministration of at least one deoxynucleoside,or mixtures thereof. For the treatment of TK2 deficiency, the pharmacologicaltherapy involves the administration of eitherdeoxythymidine (dT) or deoxycytidine (dC), or mixtures thereof. Thisadministration of deoxynucleosides is applicable to otherdisorders of unbalanced nucleotide pools, especially those found inmitochondrial DNA depletion syndrome.
