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：
RU2020112901
公开号：
RU2020112901A
申请日:
2016.06.17
申请国别(地区):
RU
年份:
2020
代理人:
摘要：
The present invention relates generally to the pharmacological treatments of human inheritance's disease, human inheritance's disease specifically those characterized by unbalanced nucleotides storehouse, more specifically mitochondrial DNA exhausts syndrome, and more specifically thymidine kinase 2 (TK2) deficiency disease.The pharmacological treatments are related to using at least one deoxyribonucleoside or its mixture.For treating TK2 deficiency diseases, the pharmacological treatments are related to using AZT (dT) or deoxycytidine (dC) or its mixture.This other illnesss applied suitable for unbalanced nucleotides storehouse of deoxyribonucleoside, particularly see mitochondrial DNA exhaustion syndrome those.
