Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

ABSTRACT:

Objective

Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in childhood and progressing relentlessly. We investigated the safety and efficacy of deoxynucleoside monophosphate and deoxynucleoside therapies.

Methods

We administered deoxynucleoside monophosphates and deoxynucleoside to 16 TK2-deficient patients under a compassionate use program.

Results

In 5 patients with early onset and severe disease, survival and motor functions were better than historically untreated patients. In 11 childhood and adult onset patients, clinical measures stabilized or improved. Three of 8 patient

SUBMITTER: Dominguez-Gonzalez C 

PROVIDER: S-EPMC7586249 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature