A genetic change discovered in babies born without a nose could help to prevent a debilitating and incurable form of muscular dystrophy that affects teenagers and adults.

Australian scientists were part of an international research team that discovered how mutations in a gene called SMCHD1 can cause a rare syndrome called bosma arhinia microphthalmia syndrome (BAMS), in which the nose fails to form during embryonic development. 

The researchers made the connection that the same gene, SMCHD1, is also faulty in people with an inherited form of muscular dystrophy called facioscapulohumeral muscular dystrophy type 2 (FSHD2). This finding brings new hope for the potential prevention of FSHD2, an incurable condition that causes muscle wasting in teenagers and young adults.

In research published in this month’s edition of the journal Nature Genetics, Walter and Eliza Hall Institute researchers Dr Kelan Chen, Associate Professor Marnie Blewitt, Dr James Murphy, Ms Tamara Beck and Ms Alexandra Gurzau and their international collaborators compared the genetic changes in SMCHD1 causing BAMS and FSHD.

Dr Chen said that the research built on the team’s earlier discovery of how FSHD2 is caused when SMCHD1 is defective and no longer functions as it should.

“We found that FSHD2 is caused when the protein SMCHD1 is damaged and can no longer function normally,” she said. “We were amazed to discover that in children with BAMS the opposite happens – the nose fails to develop in instances where SMCHD1 is activated.

“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,” Dr Chen said.

Associate Professor Blewitt said that the team had already taken the first step towards developing medicines that could halt the progression of FSHD2 with the support of a grant from the FSHD-Global Research Foundation.

“We hope that this medicine could be used to treat people who know that they carry a defective form of SMCHD1, before the muscle wasting commences,” she said. “FSHD2 does not commonly cause symptoms until gene carriers are teenagers or young adults, so there is a very good opportunity to intervene.

“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. We are hopeful that our discovery could lead to the development of therapies for FSHD and perhaps even prevention of a currently untreatable disease,” she said.

The research was a collaboration between the Walter and Eliza Hall Institute, A*STAR in Singapore, Institut Imagine in France, University Medical Center Göttingen and University of Cologne in Germany, Institut National d'Hygiène in Morocco, and Koç University in Turkey.

Ms Gurzau undertook the research as an Honours student at the institute enrolled through The University of Melbourne’s Department of Medical Biology.

The research conducted at the Walter and Eliza Hall Institute was supported by funding from sources including FSHD-Global Research Foundation, the DHB Foundation, the Dyson Bequest, Cancer Council Victoria, the National Health and Medical Research Council and the Victorian Government Operational Infrastructure Support Scheme.

Other partners in the research received funding from the governments of France, Germany, Singapore and Turkey, the French Muscular Dystrophy Association, VICTA (Visually Impaired Children Taking Action, UK), MACS (the Micro and Anophthalmic Children’s Society, UK), EMBO (the European Molecular Biology Organization), Baillie Gifford, the Jean Renny endowment, the Branco Weiss Foundation and the Faculty of Medicine Ramathibodi Hospital.

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