Identifying biomarkers for congenital and limb girdle muscular dystrophies

Biomarkers provide a non-invasive way of accurately monitoring progression of a condition and testing the effectiveness of potential treatments in clinical trials. MicroRNAs are small pieces of RNA that regulate the activity of genes, and some are being investigated as potential biomarkers for certain types of muscular dystrophy. This project aims to identify microRNAs that could be used as biomarkers for congenital and limb girdle muscular dystrophies; this would be an important and timely development to help clinicians monitor progression of the conditions and to assess the benefits of potential therapeutic treatments in future clinical trials.

What are the researchers aiming to do in this project?

Biomarkers are molecules that can be easily measured in a non-invasive way and whose levels change in line with the severity or progression of a condition. They can be used to monitor the progression of a condition and, in clinical trials, measure the effectiveness of a potential treatment. There is a need for such biomarkers for congenital and limb girdle muscular dystrophies.

Recent research has identified some microRNAs, small pieces of RNA that regulate gene activity, as potential biomarkers for Duchenne muscular dystrophy and other muscular dystrophies. In this project, Professor Muntoni and his team will search for microRNAs that could be used as potential biomarkers in muscular dystrophies known as “dystroglycanopathies” which are caused by a lack of functional alpha-dystroglycan protein. This protein is essential for maintaining muscle cell structure and function. Several enzymes are required to produce alpha-dystroglycan protein, and mutations in one of several genes that carry the genetic blueprints for these enzymes can reduce the amount of functional protein. This can cause the severe congenital muscular dystrophy variants; moderate Duchenne-like limb girdle muscular dystrophy type, or mild limb girdle muscular dystrophies such as LGMD2I.

By analysing samples from people with conditions of different severities, Professor Muntoni hopes to identify microRNAs whose levels are affected by the severity of a condition and which could be used as potential biomarkers.

How will the outcomes of the research benefit patients?

Reliable biomarkers for congenital muscular dystrophy would make it possible to accurately test potential treatments in clinical trials and to monitor progression of an individual’s condition. This work aims to identify potential biomarkers for muscular dystrophies caused by mutations in genes involved in dystroglycanopathies. This would give valuable tools for clinicians to monitor progression of the condition and for researchers to measure the effectiveness of potential new therapies in clinical trials.

Grant information

Project leader: Professor Francesco Muntoni
Location: University College, London
Conditions: congenital muscular dystrophy, limb girdle muscular dystrophy
Duration: three years, starting 2014
Total project cost: £27,493
Official title: Expression analysis of miRNAs in dystroglycanopathies and LAMA2-deficient Congenital Muscular Dystrophy

Further information and links

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