Childhood Muscle Diseases
Program Researchs begin unlocking mysteries of childhood muscle diseases
James Dowling, M.D., Ph.D
Muscle diseases can be devasting to the health and growth of afflicted children. These diseases, called myopathies, can delay children’s ability to sit, speak and walk. Some of these children remain confined to a wheelchair their entire life.
The best known of these diseases is musulcar distrophy, but there are more than 40 different kinds. There are no cures or even treatments for these disorders. Medical scientists only have the vaguest notion of the underlying genetic causes for the diseases or the mechanisms that cause the damage to muscles and nerves.
But through painstaking laboratory work, the scientists of the Program for Neurology Research & Discovery are beginning to slowly unlock, for the first time, the biological mechanisms of one such disease, myotubular myopathy, an inherited disease with severe symptoms whose origins are poorly understood.
James Dowling, M.D., Ph.D., has been leading a team of Program researchers in the development of an animal model of the disease, using zebrafish. By generating a strain of zebrafish with the characteristics of the myotubular myopathy, they can study the mechanisms and presentation of the disease in a way previously unavailable.
They have discovered that these zebrafish have unique abnormalities in a section of the muscles called the tubulo-recticular system, which is vital for normal muscle contraction. They then looked for and identified similar changes in muscle from human patients with myotubular myopathy, corroborating the importance of the zebrafish findings.
It’s a major step forward in the long road to understand and treat childhood myopathies.
“Our study is the first to identify a potential mechanism to explain the clinical features of myotubular myopathy,” says Dowling. “By revealing abnormalities in the tubuloreticular system, we provide a novel link with other similar muscle diseases.”
The team’s findings were published on February 6 in the journal PLoS Genetics.
