Dmpk CTG480 Knockin Myoblasts as a Cell Model for Myotonic Dystrophy Type 1

Myoblasts Isolated from a Myotonic Dystrophy Type 1 Mouse Model Serve as a Platform for Drug Development and Research

These Dmpk CTG480 knockin mouse myoblasts are isolated from Dmpk CTG480 knockin mice for use as a cell model for myotonic dystrophy type 1. Myotonic dystrophy type 1 (DM1) is an inherited, multi-system disorder, affecting 1 in 8500 individuals worldwide. However, no effective therapies are available for this disease. Clinical symptoms may vary from almost asymptomatic to progressive skeletal muscle wasting, repetitive muscle contractions (myotonia), early onset particulate cataracts, insulin resistance and cardiomyopathy. DM1 pathogenesis is characterized by abnormal expansion of trinucleotide CTG repeat in the gene DMPK on chromosome 19. Even though researchers identified the mutation responsible for the clinical manifestations of DM1 in 1992, development of effective treatments still requires elucidation of molecular mechanisms.

Researchers at the University of Florida have isolated myoblasts from a Dmpk CTG480 knockin mouse model for DM1. This cell model serves as an invaluable tool for the study of DM1 pathogenesis and as a translational platform for therapeutic drug development.

Application

A Dmpk CTG480 knockin myoblast platform for therapeutic drug development and for elucidating molecular mechanisms for DM1

Advantages

• Contains a CTG trinucleotide repeat expansion in Dmpk, which is the gene affected in human DM1 patients
• Serves as a tool to assess the cellular effects of therapeutic compounds on mutations associated with DM1
• Is a cost-effective tool for basic and therapeutic research, serving to help understand molecular mechanisms of DM1 RNA-toxicity and the effects of trinucleotide expansions on cellular pathways

Technology

Primary myoblasts are isolated from a Dmpk CTG480 knockin mouse model of DM1.