New discovery could improve Duchenne muscular dystrophy therapies

A new study has discovered a protein that could improve therapies for Duchenne muscular dystrophy (DMD), which is the most common fatal genetic disorder in children.

The study was jointly conducted by the University of California and Florida State University (FSU), with collaboration from scientists across the US.

The research found that increased levels of the sarcospan protein improved cardiac function by reinforcing the cell membranes in the heart, which become weakened in people with DMD.

DMD affects children, specifically young boys, as the body is prevented from producing dystrophin, which is a protein that is pivotal to the good health of the respiratory system, cardiac muscles and skeletal system.

Michelle Parvatiyar, Lead Author of the report and Assistant Professor in the Department of Nutrition, Food and Exercise Sciences at FSU, said: “Patients (with DMD) typically live to 20 or 30 years of age. There have been important improvements in respiratory care, which used to be what a majority of patients would succumb to.

“Now, in their 20s and 30s, they’re often succumbing to cardiomyopathy. The heart is functioning with a major component of the cell membrane missing. Over time, it wears out.”

The researchers say that sarcospan does not work as a direct replacement for dystrophin, their research has found that it can stabilise the cell membranes, even under stress.

Michelle Parvatiyar, said: “Sarcospan doesn’t quite do the job of dystrophin, but it acts as a glue to stabilize the membrane and hold protein complexes together when dystrophin is lacking.”

 

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