Study Delves into the Various Levels of Severity in Duchenne Muscular Dystrophy Patients

A recent study has helped unravel the complex symptoms of Duchenne muscular dystrophy, which is the most common form that muscular dystrophy takes. The finding looked at why different patients diagnosed with Duchenne muscular dystrophy had a different response to the same amount of dystrophin protein loss in their muscles, a key characteristic in all patients with the disorder.

This anomaly was the focus of a study led by Eric Hoffman, a professor of pharmaceutical sciences and associate dean for research at Binghamton University's School of Pharmacy and Pharmaceutical Sciences and his colleagues. All patients diagnosed with Duchenne muscular dystrophy share the same abnormalities of certain genes and proteins within the body, however, there are distinct differences in the severity of the disorder between patients. While some patients with Duchenne muscular dystrophy cannot walk by the time they are 10, others are able to walk until they reach their twenties.

The study wanted to focus in on why the severity of Duchenne muscular dystrophy varies from person to person. The exact reason, however, is not clear. But, these efforts may show promising evidence that will help physicians further understand this disease. With this study, it actually has been suggested that a region in the patient's immune system may be directly responsible for determining the severity of Duchenne muscular dystrophy.

This region includes a gene known as CD40, which is a modulator within the immune system. The gene was found to hold what is known as a polymorphism that can ultimately dictate the severity of Duchenne muscular dystrophy within patients. Polymorphisms consist of small alterations among the genes that control the variety of physical characteristics in patients, such as the color of their hair, height, skin pigment, as well as other factors contributing to the uniqueness of an individual.

Read on to learn more about what this study has learned about Duchenne muscular dystrophy's varying severity.