Possible New Treatment for Facioscapulohumeral Muscular Dystrophy

A team of researchers from the University of Alberta have created a possible treatment for facioscapulohumeral muscular dystrophy (FSHD). Their work has been published in the Proceedings of the National Academy of Sciences, and it proves the potential of this therapy.

About Facioscapulohumeral Muscular Dystrophy (FSHD)

FSHD is a form of muscular dystrophy that affects the muscles of the face, upper arms, and around the shoulder blades. As it progresses, other muscles will be affected as well. Severity, age of onset, and present symptoms vary between affected individuals. In terms of muscular dystrophies, this form progresses slowly and does not affect life expectancy. Those with FSHD experience progressive muscle weakness, which affects their abilities to complete certain tasks, such as using a straw, whistling, lifting the arms, and walking. There are two genetic causes of these symptoms, both inherited in an autosomal dominant pattern. The first is an abnormal DUX4 gene, and the second is a mutated SMCHD1 gene.

A New Treatment

Toshifumi Yokota, of the University of Alberta, is leading a team to create and test their new treatment for FSHD. It is a synthetic DNA-like molecule that purposely stops the toxic protein responsible for the muscle degeneration in FSHD. Their treatment will block the DUX4 protein so that the muscles cannot be harmed.

The therapy is called locked nucleic acid gapmer antisense oligonucleotides, but are more often known as gapmers. When it was tested in mice and human cells, it was shown to block about 99% of DUX4 production, leading to more functional and larger muscle cells. The success of this therapy is not surprising, as it has already been developed for the treatment of other diseases, such as Huntington’s, high cholesterol, and a number of cancers.

The researchers are excited to move on in the testing and development of these gapmers. They will study side-effects, delivery methods, safety, and efficacy in the future. If successful, they will create the first treatment specifically for FSHD.

Read more about gapmers here.


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