Melbourne researchers learn more about FSHD2

Researchers at the Walter and Eliza Hall Institute have studied the genetic mistake that causes facioscapulohumeral muscular dystrophy type 2 (FSHD2) and discovered more about how it causes this muscle wasting condition.

Most people with FSHD have a change on chromosome number 4 which ‘switches on’ the production of a protein called DUX4 that is toxic to muscle. Less than 5 percent of people with FSHD have a different genetic change located on chromosome number 18 which results in a diagnosis of FSHD2, but the symptoms are very similar. 

In 2012 researchers found that this genetic change on chromosome 18 involves a gene called 'SMCHD1' which normally switches off other genes. It is thought that this gene plays an important role in stopping the production of DUX4 protein from the instructions located on chromosome 4. Genetic mistakes in SMCHD1, as in FSHD2, can cause it to lose control of DUX4 protein production. So in both FSHD1 and FSHD2 the end result is the same – the production of DUX4 protein – but the error that causes the gene to be switched on is located in different places, either within the DUX4 gene itself (FSHD1) or on a distant chromosome (FSHD2).

The Melbourne researchers studied the SMCHD1 gene to find out exactly how it controls other genes. They used various techniques in the laboratory including examination of the genomes of mice which lack the SMCHD1 gene and studying artificially produced fragments of SMCHD1 protein. They discovered where in the genome SMCHD1 exerts its effect, what other protein partners it works with and what parts of the SMCHD1 protein are important.

All of this information is key for the development of future therapies for FSHD2. A clear understanding of how the SMCHD1 gene works, may allow scientists to find ways of intervening in the disease process. This is very early stage research though and it will be some time before clinical benefits are seen.

This research was published in the journal ‘Proceedings of the National Academy of Sciences’ and is available for free download, but it is written in technical language with no summary in lay terms.

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Updated 22 June 2015



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