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Macrophages are prominent in human and mouse models of dysferlinopathy. Our preliminary data indicates that macrophages that home and accumulate in muscles are promoting muscle injury and destruction. Thus, strategies that eliminate these muscle homing injurious macrophages will undoubtedly thwart intra-muscle destructive inflammation. CSF-1 and IL-34 are principle growth factors for macrophages. We will probe for CSF-1 and IL-34 expression in muscles of patients with dysferlinopathy.
Autosomal recessive mutations in the human gene encoding the dysferlin protein (DYSF) are the cause of rare forms of muscular dystrophies known as dysferlinopathies, and more specifically, as limb girdle muscular dystrophy type 2B (LGMD2B) or Miyoshi myopathy (MM). Dysferlin is a 237 kDa type II transmembrane skeletal muscle protein associated with the sarcolemma, where its function appears to be required for efficient muscle contraction and muscle membrane repair.
Ira A. and Mary Lou Fulton Chair in Motor Neuron Diseases
Director, Gregory W. Fulton ALS and Neuromuscular Disorders Center, Barrow Neurological Institute
Associate Professor of Neurology, University of Arizona
240 W. Thomas Rd.
Phoenix, AZ 85013
Why did you enroll? I enrolled in the study because they were looking for study participants, with very specific criteria. I know that there aren't very many people with my type of dystrophy, in the general population, and I wanted to help future Miyoshi patents, if not myself to test out future therapies. It's not a lot of fun, but, without patients to study, they can only model different theories without any data to find out for sure. I hope my small part, can help, with their research for a cure.
Why did you enroll? I chose to take part in Dr. Zimmerberg’s research for the “greater good” and an unanticipated benefit is I’m learning an amazing amount of detail about my overall health, LGMD, and how the disease is affecting me.