Training in Muscle Pathologies & Therapies

PMI members investigate several muscle-based pathologies, including muscular dystrophy, inherited cardiomyopathies, and other neuromuscular diseases.

 

PMI members investigate several muscle-based pathologies, including muscular dystrophy, cardiomyopathies, and neuromuscular diseases. The goal is to understand the molecular basis of these diseases, allowing for the development of effective therapies. A recent area of research concentration of PMI laboratories is the use of viral-mediated gene transfer to study many aspects of muscle function. The primary application of this tool has been gene therapy for diseases in muscle and other tissues. In this context, missing or mutant genes can be replaced by the introduction and expression of a correct gene. These efforts have focused on the treatment of muscular dystrophy. However, because gene transfer is very efficient in muscle, other studies have utilized skeletal muscle as a "factory" for generating proteins needed elsewhere in the body.

Members are also investigating how genetic mutations result in proteins related to the contractile machinery result in cardiac, skeletal, and smooth muscle diseases at the molecular level.  These include mutations in myosin, actin, titin, and dystrophin.

Investigating Members: