Fundació Hospital Universitari Vall d'Hebron-Institut de Recerca;The Trustees of Columbia University in the City of New York
发明人:
Michio Hirano,Caterina Garone,Ramon Marti
申请号：
US16583852
公开号：
US20200038424A1
申请日:
2019.09.26
申请国别(地区):
US
年份:
2020
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.
