Understanding the causes of Emery-Dreifuss muscular dystrophy

Professor Eric Schirmer and his team at the University of Edinburgh aim to identify important genes that underlie Emery-Dreifuss muscular dystrophy (EDMD). This will improve our understanding of what goes wrong in muscle with EDMD, which is key to developing potential treatments.



A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism, EBioMedicine, December 2019

Researchers at the University of Edinburgh have developed a way to identify genes, that when mutated, cause EDMD. Using this approach, the researchers have identified more than 20 new mutations. This approach could also be adapted to identify genes involved in other rare diseases.

We know that many people with neuromuscular conditions are living without a genetic diagnosis. This research could pave the way to help people to get a diagnosis earlier. This will help people to manage their condition thereby helping to provide a better quality of life.

  • Dr Kate Adcock, Director of Research and Innovation, MDUK

What are the aims of the project?

EDMD can be caused by mutations in different genes. But there may be other genes that also contribute to the muscle damage. This project aims to identify these genes.

Why is this research important?

Identifying common genes that play a role in EDMD will increase our understanding of what is going wrong in these muscle cells. This is important as it could inform the design of potential treatments that are not mutation specific.

What will the researchers do?

Professor Schirmer and his team have identified four new genes that, when mutated, are thought to cause EDMD. The proteins that these genes produce sit in the nuclear membrane, which encloses the DNA in the nucleus of the cell.

The researchers will study cells with different EDMD mutations and compare their gene activity. They will look for genes that are commonly changed in the EDMD cells. The genes will then be studied further in muscle cells in the lab to see how they contribute to muscle damage in EDMD.

They will also study the proteins that are produced by these genes. They will look at whether the proteins are inside or outside of the nucleus. This will help us to understand whether they have a role in gene activity or signals outside the nucleus.

Once we know this, we can start to think about possible therapeutic approaches. For example this could be designing molecules that act like glue or scaffolding to stabilise these proteins at the nuclear membrane in EDMD muscle cells.

Grant information

Project leader: Professor Eric Schirmer
Institute: University of Edinburgh
Condition: Emery-Dreifuss muscular dystrophy (EDMD)
Duration: Two years
Total cost (£): 145,185
Official title: Identification of convergent gene regulatory pathways as novel targets in Emery-Dreifuss muscular dystrophy

For further information

If you would like further details about this research project, please contact the MDUK Research Line on 02078034813 or email research@musculardystrophyuk.org

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