Professor Henry Houlden at University College London is investigating whether an enzyme called Sirt1 has a role in muscle repair in Duchenne muscular dystrophy. Findings from this study will determine if targeting Sirt1 could help to treat Duchenne.
What are the aims of the project?
This project aims to increase our understanding of muscle repair in Duchenne muscular dystrophy and whether Sirt1 plays a role.
Why is this research important?
Sirt1 is thought to play an important role in muscle repair and protection. Previous research has shown that altering the activity of Sirt1 can protect the muscle in mdx mice. However, we don’t know whether this would be beneficial in human muscle cells with Duchenne. This research will confirm if what we know from mice is the same as in human cells, and whether Sirt1 could be a potential drug target in Duchenne muscular dystrophy.
What will the researchers do?
Professor Houlden and his team will develop a new human cell model to assess muscle formation in Duchenne muscular dystrophy. They will take skin cells from people with Duchenne and turn them into muscle stem cells using induced pluripotent stem cells technology (see figure below). The team will carefully examine the activity of Sirt1 and whether this is affected in the Duchenne cells. The researchers will then treat the cells with different drugs, including ones that are already approved allowing for re-purposing, that alter Sirt1 activity to see if this improves muscle formation.
Generation of muscle cells from skin cells
How will the outcomes of this research benefit people with Duchenne?
Finding ways to improve muscle repair could help to delay or reduce muscle wasting in people with Duchenne muscular dystrophy. Data from this study will show us if the targeting of Sirt1 can be a potential treatment for Duchenne.
Project leader: Professor Henry Houlden
Institute: University College London
Condition: Duchenne muscular dystrophy
Duration: One year
Total cost (£): 30,000
Official title: Validation of Sirt1 – new therapeutic target for
Duchenne muscular dystrophy in a human
For further information
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