Inside Pediatrics Spring 2023

A PROMISING PATHWAY STUDYING A NEW APPROACH TO DUCHENNE MUSCULAR DYSTROPHY

DMD is caused by a mutation in the gene that encodes for the dystrophin protein.

Michael Lopez, M.D., Ph.D., is using a nearly $1 million grant to study a novel pathway in the development and progression of DMD.

W hat happens when you knock out a ubiquitous protein in muscle that appears to be involved in numerous neuromuscular diseases, including Duchenne muscular dystrophy (DMD)? That’s the question Children’s of Alabama pediatric neurologist Michael Lopez, M.D., Ph.D., and his mentors, University of Alabama at Birmingham (UAB) professor Peter King, M.D., and associate professor Matthew Alexander, Ph.D., are trying to answer.

Lopez recently received a Career Development Award worth nearly $1 million from the National Institute of Neurologic Disorders and Stroke to better understand a novel pathway involved in the development and progression of DMD.

The disease, which primarily affects males, is caused by a mutation in the gene that encodes for the dystrophin protein, which is critical for musculoskeletal health. Without this protein, muscles degrade over time, resulting in a severe paralysis that affects breathing and eventually causes the heart to fail. Patients typically die in their early 20s or 30s. There is no satisfactory treatment for DMD. A multidisciplinary approach involving neurology, cardiology, pulmonary care and rehabilitation—among other specialties—helps patients manage the disease. Immune-dampening corticosteroids are the primary medical therapy.

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