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Studying the importance of metabolic stress in FSHD

Professor Zammit’s team aims to study the relationship between metabolic stress and pathology in FSHD, an area that to date has been poorly researched.
Principal Investigator
Professor Peter Zammit
King's College London
Official title
Investigation of metabolic adaptation in FSHD to identify novel pathomechanisms and therapeutics
12 months
Total cost
Facioscapulohumeral muscular dystrophy


Facioscapulohumeral muscular dystrophy (FSHD) is a muscle-wasting condition caused by a genetic mutation, which switches on a gene that shouldn’t normally be switched on. It is one of the most common forms of muscular dystrophy, and there is currently no effective treatment.

FSHD is caused by a change in the DNA that leads to the production of a protein called DUX4, which is not normally present in muscle. DUX4 is a transcription factor and so controls the activity of other genes, and the proteins made from these genes. DUX4 disrupts the careful balance of proteins within a muscle cell, ultimately leading to muscle weakness and wasting.

What are the aims of the project?

This project proposes to build on previous research by Prof Zammit’s team, in which they identified novel genes and mechanisms related to metabolic stress, which they believe are important in the pathology of FSHD. This project would aim:

(1) to identify the gene expression and metabolic changes that occur in muscle cells taken from people with FSHD

(2) to study how these changes affect the ability of these muscle cells to respond and adapt to varying oxygen availability, and

(3) to determine whether DUX4 modulates metabolism and oxidative stress (an imbalance in oxygen-containing molecules which causes harm to cells).

Why is this research important?

The study will provide a better understanding of the relationship between metabolic stress and the pathology of FSHD. Ultimately, this may lead to new targets for treatment.

It is only through your contributions that we can continue to fund the vital work that takes us closer to finding treatments and cures for muscle-wasting conditions. Donate now and help change the lives of thousands of people living with these conditions. Thank you for your support.

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