Testing the efficacy of Ataluren on restoring dysferlin expression and function in a mouse model

Recent efforts to develop therapeutic strategies for the treatment of some forms of muscular dystrophy have focused on various approaches to allow for read-through of premature stop codons and similar variations that alter the expression of genes relating to muscular dystrophy.   These approaches attempt to avoid the effects of a single nucleotide in the DNA sequence that encodes for a protein. Presence of this non-sense mutation may completely disrupt the reading frame of the protein and produce an incomplete, non-functional truncated protein.


The Dysferlin Registry

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Module - Patient Registration
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The Jain Foundation curates an international registry for people with dysferlinopathy. The registry is the main point of contact for patients when requesting information, education about the disease, to participate in forums, to learn about studies and trials.

Mechanisms of muscle steatosis in dysferlinopathy: relationship to interaction of dysferlin and PTRF

The first objective of our study is to explore the underlying mechanisms as to how excessive lipids (fat or triglycerides) accumulate in the muscle of dysferlin-deficient mice and humans. The second objective is to define how the deficiency of Cavin-1 protein (also known as PTRF), which plays a role in forming caveolae (small invaginations on the cell membrane), affects the function and subcellular localization of dysferlin (DYSF) in mice and in human.

We have been engaged for last several years in exploring and understanding how loss of protein(s) leads to loss of adipose tissue, both in animal models and in humans and have developed tools to explore the biology of fat in tissues like the liver and muscle. From this perspective, we have designed experiments to determine why a few muscles, like psoas, in dysferlin-deficient mice, accumulate lipids and to measure the deleterious effect of lipid accumulation in muscle function.


Abhimanyu Garg, MD and Anil Agarwal, Ph.D.

University of Texas Southwestern Medical Center (Dallas, TX)

Abhimanyu Garg, MD is a Professor of Internal Medicine and Chief of the Division of Nutrition and Metabolic Diseases at the University of Texas Southwestern Medical Center in Dallas, Texas. He holds a Distinguished Chair in Human Nutrition Research. Anil Agarwal is also a Professor of Internal Medicine in the Division of Nutrition and Metabolic Diseases at the University of Texas Southwestern Medical Center.

Research Projects

Development of 3-dimensional human skeletal muscle tissue models of Limb-Girdle Muscular Dystrophy 2B

Develop a cellular model of LGMD2B to enable studies of dysferlin's function and preclinical testing of drug candidates

We have recently made progress in using 3D cell culture techniques to engineer functional skeletal muscle tissues from human pluripotent stem cells. We will further optimize this technology and apply it to generate contractile muscle tissues using induced pluripotent stem cells (iPSCs) from three LGMD2B patients and two healthy human donors. The resulting iPSC-derived dysferlin-deficient human muscle tissues will be systematically characterized by various structural, functional, and molecular assays.


Nenad Bursac, PhD

Duke University (Durham, NC)

Dr. Bursac is a Professor in the Department of Biomedical Engineering (Durham, NC).

Research Projects

Noah Lucas Weisleder, PhD

Ohio State University

Noah Lucas Weisleder, PhD is an associate professor in the Department of Physiology and Cell Biology at Ohio State University Wexner Medical Center.

Research Projects