Coalition to Cure Calpain 3 (C3) is pleased to announce that we are funding a new research grant to Dr. Kathryn Wagner. Dr. Wagner, Director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute and Professor of Neurology and Neuroscience at the Johns Hopkins School of Medicine, will investigate “Targeting Mss51 as a therapeutic option for calpainopathy.”
Mss51: A MUSCLE-SPECIFIC MITOCHONDRIAL GENE
Mitochondria are the part of the cell that break down sugar and fats and turn them into energy that can be used for a variety of cellular processes such as muscle cell contraction. Dysfunction of mitochondria has been suspected to play a role in many kinds of diseases including several types of muscular dystrophy.
Abnormal mitochondria have been observed in muscle from patients with calpainopathy (also called Limb Girdle Muscular Dystrophy type 2A, or LGMD2A) and may contribute to disease pathogenesis. Dr. Wagner has recently described a muscle-specific mitochondrial gene, Mss51. When genetically deleted in mice, Mss51 leads to improved mitochondrial activity with increased energy production. Dr. Wagner hypothesizes that reduction in Mss51 will improve the muscle function of a mouse model of calpainopathy. The experiments in this proposal will determine if Mss51 is a viable target for the treatment of calpainopathy.
THE IMPORTANCE OF Mss51 TO PATIENTS WITH CALPAINOPATHY
C3 Scientific Director Dr. Jennifer Levy explains, “Given the observations of abnormal mitochondria in muscles from calpainopathy patients, there is a strong rationale for examining their role in contributing to this disease. If this study shows mitochondrial and muscle functions are improved when Mss51 is inhibited or deleted in a mouse model of calpainopathy, then it would support this approach as a potential therapy for calpainopathy patients.”
Dr. Wagner notes, “We are eager to do this work with the support of C3. Mss51 is a novel and very interesting protein. We hope to apply what we are learning about Mss51 and mitochondria to the treatment of calpainopathy.”