ЗЕ ТРАСТИС ОФ КОЛАМБИЯ ЮНИВЕРСИТИ ИН ЗЕ СИТИ ОФ НЬЮ-ЙОРК (US);ФУНДАСИО ОСПИТАЛЬ УНИВЕРСИТАРИ ВАЛЬ Д'ЭБРОН-ИНСТИТУТ ДЕ РЕСЕРКА (ES)
发明人:
ХИРАНО Мичио (US),ГАРОНЕ Катерина (GB),МАРТИ Рамон (ES)
申请号：
RU2018101305
公开号：
RU2018101305A
申请日:
2016.06.17
申请国别(地区):
RU
年份:
2019
代理人:
摘要：
The invention relates generally to a pharmacological therapy for human genetic diseases, specifically those characterized by unbalance nucleotide pools, more specifically mitochondrial DNA depletion syndromes, and more specifically, thymidine kinase 2 (TK2) deficiency. The pharmacological therapy involves the administration of at least one deoxynucleoside, or mixtures thereof. For the treatment of TK2 deficiency, the pharmacological therapy involves the administration of either deoxythymidine (dT) or deoxycytidine (dC), or mixtures thereof. This administration of deoxynucleosides is applicable to other disorders of unbalanced nucleotide pools, especially those found in mitochondrial DNA depletion syndrome.
