ScientiaCME Thymidine kinase 2 deficiency identification and management: TK2D-MDDS, do you copy?
Activity Description / Statement of Need:
In this online, self-learning activity:
Thymidine kinase 2 deficiency (TK2D) is an ultrarare mitochondrial disease caused by recessive mutations in the TK2 gene and manifesting as a form of mitochondrial DNA depletion/deletion syndrome (MDDS) and mitochondrial myopathy. Under normal conditions, the TK2 gene encodes for the thymidine kinase enzyme present in the mitochondria, which is responsible for the phosphorylating of pyrimidine nucleosides, deoxythymidine, and deoxycytidine. These are the first steps in mitochondrial DNA synthesis, and researchers speculate that TK2 mutations affect muscle tissue because its higher energy demands make it most susceptible to mitochondrial impairment. Mutational analyses of patients with MDDS have found that approximately 15% have TK2 mutations, which may be extrapolated to about 600 to 2,700 individuals in the US.
Target Audience:
HCPs including but not limited to: neurologists, pediatric neurologists, pediatricians, primary care providers, pulmonologists, gastroenterologists, and medical geneticists; physician assistants, nurse practitioners, pharmacists, and nurses who practice in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with TK2D.
Cost: Free
View Offer chevron_rightDetails
Activity Description / Statement of Need:
In this online, self-learning activity:
Thymidine kinase 2 deficiency (TK2D) is an ultrarare mitochondrial disease caused by recessive mutations in the TK2 gene and manifesting as a form of mitochondrial DNA depletion/deletion syndrome (MDDS) and mitochondrial myopathy. Under normal conditions, the TK2 gene encodes for the thymidine kinase enzyme present in the mitochondria, which is responsible for the phosphorylating of pyrimidine nucleosides, deoxythymidine, and deoxycytidine. These are the first steps in mitochondrial DNA synthesis, and researchers speculate that TK2 mutations affect muscle tissue because its higher energy demands make it most susceptible to mitochondrial impairment. Mutational analyses of patients with MDDS have found that approximately 15% have TK2 mutations, which may be extrapolated to about 600 to 2,700 individuals in the US.
Target Audience:
HCPs including but not limited to: neurologists, pediatric neurologists, pediatricians, primary care providers, pulmonologists, gastroenterologists, and medical geneticists; physician assistants, nurse practitioners, pharmacists, and nurses who practice in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with TK2D.