New hope for untreatable muscular dystrophy


By Adam Florance
Thursday, 02 February, 2017


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The discovery of a gene that affects nose growth during embryonic development may hold the key to preventing a currently untreatable form of muscular dystrophy.

Researchers from the Walter and Eliza Hall Institute of Medical Research (WEHI), in collaboration with a raft of international colleagues, have discovered that mutations in the SMCHD1 gene can lead to a rare condition known as bosma arhinia microphthalmia syndrome (BAMS). This condition results in the failure of an embryo’s nose to develop. Unexpectedly, the same gene is culpable in the inherited condition called facioscapulohumeral muscular dystrophy type 2 (FSHD2).

FSHD2 typically presents during adolescence, which is good news for developing treatments that can apply this new discovery. WEHI’s Associate Professor Marnie Blewitt is confident that medicines which can halt the progression of FSHD2 can be developed quickly, stating, “FSHD2 does not commonly cause symptoms until gene carriers are teenagers or young adults, so there is a very good opportunity to intervene.”

With a grant from the FSHD Global Research Foundation, said Associate Professor Blewitt, “this medicine could be used to treat people who know that they carry a defective form of SMCHD1, before the muscle wasting commences”.

WEHI’s Dr Kelan Chen is positive about the potential that this discovery may mean for inheritors of this currently incurable condition, saying, “This is really exciting, because it gives us clues about how to design medicines that boost SMCHD1’s activity to protect the body from the development of FSHD2.

“This approach is also relevant to FSHD type 1 (FSHD1) patients, as defective SMCHD1 is associated with a more severe disease suggesting that boosting SMCHD1 could treat all sufferers of FSHD1 and FSHD2.”

Associate Professor Blewitt concluded: “We are hopeful that our discovery could lead to the development of therapies for FSHD and perhaps even prevention of a currently untreatable disease.”

This research, published in Nature Genetics, was an international collaboration between Turkey’s Koç University, Morocco’s Institut National d'Hygiène, Germany’s University of Cologne and University Medical Center Göttingen, the Institut Imagine of France, Singapore’s A*STAR and the Walter and Eliza Hall Institute. Funding came from a wide array of international bodies, including FSHD Global Research Foundation, DHB Foundation, Dyson Bequest, French Muscular Dystrophy Association, VICTA (Visually Impaired Children Taking Action, UK), MACS (the Micro and Anophthalmic Children’s Society, UK), European Molecular Biology Organization, Baillie Gifford, Jean Renny endowment, Branco Weiss Foundation, Faculty of Medicine Ramathibodi Hospital, Cancer Council Victoria, National Health and Medical Research Council and the Victorian Government Operational Infrastructure Support Scheme.

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