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Nose Gene’s Role in Muscular Dystrophy Onset

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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...

The full text of this article can be purchased from Informit.