New treatments could one day be available for the most common form of muscular dystrophy after a study suggests the debilitating genetic disease affects the stem cells that produce healthy muscle fibres.
The findings are based on research from the University of Ottawa and The Ottawa Hospital, published Monday in the journal Nature Medicine.
For nearly two decades, doctors had thought the muscular weakness that is the hallmark of the disease — which affects approximately one in 3,600 boys and, in many cases, is fatal within the first three decades of life — was due to problems with human muscle fibers, said Dr. Michael Rudnicki, the study’s senior author.
The new research shows the specific protein whose absence characterizes Duchenne muscular dystrophy normally exists not only in muscle fibres, but also stem cells.
“This was something that was unexpected,” Rudnicki told Alan Neal, host of CBC’s All in a Day, Monday afternoon.
“The prevailing notion was that the protein that’s missing in Duchenne muscular dystrophy — a protein called dystrophin — was not involved at all in the function of the stem cells.”