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Nose Gene’s Role in Muscular Dystrophy Onset

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.

An international research team discovered that 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 SMCHD1 is also faulty in people with an inherited form of muscular dystrophy called facioscapulohumeral muscular dystrophy type 2 (FSHD2), an incurable condition that causes muscle wasting in teenagers and young adults.

Dr Kelan Chen of the Walter and Eliza Hall Institute (WEHI) 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,” Chan 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,” Chen said.

A/Prof Marnie Blewitt of WEHI said that the team had already taken the first step towards developing medicines that could halt the progression of FSHD2. “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 published in Nature Genetics.