Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency
Abstract
Autosomal recessive human thymidine kinase 2 (TK2) mutations cause TK2 deficiency, which typically manifests as a progressive and fatal mitochondrial myopathy in infants and children. Treatment with pyrimidine deoxynucleosides deoxycytidine and thymidine ameliorates mitochondrial defects and extends the lifespan of Tk2 knock‐in mouse (Tk2KI) and compassionate use deoxynucleoside therapy in TK2 deficient patients have shown promising indications of efficacy. To augment therapy for Tk2 deficiency, we assessed gene therapy alone and in combination with deoxynucleoside therapy in Tk2KI mice.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Aug 13, 2021
- Source ID
- 10.1002/ana.26185
Entities
People
- Carlos Lopez‐gomez
- Eung Jeon Lee
- Giulio Kleiner
- Guangping Gao
- Hasan Orhan Akman
- Jun Xie
- Maria J. Sanchez‐quintero
- Michio Hirano
- Saba Tadesse
Organizations
- Columbia University
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- J. Willard and Alice S. Marriott Foundation
- United States Department of Defense
- University of Massachusetts