Evaluation of Therapies to Enhance Muscle Function in Dysferlinopathies

Elizabeth Barton, PhD

University of Pennsylvania (Philadelphia, PA)

Dr. Barton is an Assistant Professor of Anatomy and Cell Biology in the University of Pennsylvania School of Dental Medicine (Philadelphia, PA).

Past Projects

Objective: 
Define a functional signature for skeletal muscle from dysferlin deficient mice for use in evaluating potential therapies

The mouse models for dysferlin deficiency recapitulate the primary membrane-resealing defect in muscle. However, the disease progresses slowly, lengthening the time for evaluating any potential therapies. Histologic characterization has shown that the abdominal muscles of the A/J mouse provide the most severe pathology, yet this muscle (the rectus abdominus) is difficult to use for functional measurements due to its fiber geometry/architecture. Therefore, the goal of this study is to define a functional signature for the skeletal muscles in the A/J mouse over the course of 1 year. Isolated force measurements will be performed in the limb muscles (extensor digitorum longus (EDL) and soleus), and the diaphragm from 1 - 12 months of age. This will provide a solid basis for evaluating any potential therapies in terms of force generating capacity.