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Testing new potential treatments for ADSSL1 myopathy

Dr Pertusati will produce drugs that could potentially improve how energy is used in muscles, to find out if they might be of treatment use for ADSSL1 myopathy.
Principal Investigator
Dr Fabrizio Pertus
Cardiff University
Official title
Adenylosuccinate prodrugs as potential treatment for ADSSL1 myopathy
12 months
Total cost
Nemaline myopathy

Project background

ADSSL1 myopathy is a progressive muscle-wasting condition. Symptoms such as weakness in the leg and arm muscles usually begin when a person is in their early teens. As the condition progresses, it can also affect the heart and lungs, as well as the muscles that help us swallow. There are no effective treatments for ADSSL1 myopathy.

ADSSL1 myopathy is caused by changes in a gene that creates a protein called adenylosuccinate synthase-1 (ADSSL1). ADSSL1 is an enzyme needed for producing energy in muscle cells. It produces a molecule called adenylosuccinate.

Genetic changes in ADSSL1 create a problem for the production of adenylosuccinate, and in turn for the energy production in muscles, interfering with the way muscles work and causing them to weaken. The main goal of this project is to take us closer to treating and managing this condition.

The project aim

The project aim is to produce the synthetic form of adenylsuccinate product of ADSSL1 enzyme in the laboratory, to later understand if supplying the muscle with the enzyme product would have therapeutic benefit

Why this research is important

There is currently no effective treatment for ADSSL1 myopathy. The research will test a known drug for its ability to potentially help treat people in the future. If it works, it could bring great benefits to people living with ADSSL1 myopathy.

This is a basic type of research, and the drug would need to be tested on animal models before entering clinical trials.

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