Researchers from The Ottawa Hospital and uOttawa played a key role in a study that could lead to a new understanding of facioscapulohumeral muscular dystrophy (FSHD). This rare genetic disorder can cause debilitating muscle wasting, pain and fatigue, typically beginning in early adulthood.

While more than 50 genetic mutations have been associated with FSHD, they are all thought to cause disease through the same mechanism: by increasing the expression of a gene called DUX4 in muscle. This gene is only supposed to be expressed during early embryo development, but in people with FSHD, it is expressed throughout life, causing muscle wasting.

However, Dr. Jeffrey Dilworth and colleagues at The Ottawa Hospital recently published a study in Nucleic Acids Research showing for the first time that an additional mutation in the SMCHD1 gene accelerates the FSHD disease process by changing the expression of secondary genes that normally repair muscle wasting.

These results suggest that targeting the SMCHD1 mutation may open new avenues for therapy interventions to treat this difficult form of FSHD.

Authors: Matthew Man-Kin Wong, Sarah Hachmer, Ed Gardner, Valeria Runfola, Eric Arezza, Lynn A Megeney, Charles P Emerson, Jr, Davide Gabellini, F Jeffrey Dilworth.

Funding: ERA-Net for Research on Rare Diseases, Canadian Institutes of Health Research

The Ottawa Hospital is a leading academic health, research and learning hospital proudly affiliated with the University of Ottawa and supported by The Ottawa Hospital Foundation.