Predicting the impact of exon skipping on dystrophin function

Federica_Montanaro_microscope

Dr Federica Montanaro at University College London (UCL) is investigating the impact that exon skipping has on the function of the dystrophin protein. The findings of this project will be important for designing future molecular patches for people with Duchenne muscular dystrophy.

What are the aims of this research project?

Before someone with Duchenne muscular dystrophy can undergo exon skipping therapy, it is essential to have information about their mutation. For example, this might be which exons are deleted in the dystrophin gene. Scientists can then design a molecular patch that ‘masks’ the mutation and allows the body to produce dystrophin protein.

Although two people with Duchenne muscular dystrophy may be given the same molecular patch, they may have different genetics e.g. different exons deleted. This means that their dystrophin proteins may be slightly different and may not function in the same way (click here for explanation). Ultimately, this means that the clinical benefit of the molecular patch may vary between the two people.

Previous studies have shown that some dystrophin proteins work better than others. For example, some of them are functional in the heart and diaphragm muscles while others aren’t. This project is aiming to find out why this is the case. It will investigate which parts of the dystrophin protein are essential for it to be functional in all muscles of the body (including those for movement, the heart and diaphragm).

Why is this research important?

This research will help fill gaps in our knowledge of how dystrophin functions in different muscles, and what parts of the dystrophin protein are important for those functions. This knowledge is important for the designing of future molecular patches and ensuring that they have an effect in all the muscles of the body.

How will the outcomes of this research benefit people with this condition?

The findings of this project will be important for designing future molecular patches for people with Duchenne muscular dystrophy. Its findings will also help scientists to make more accurate predictions of which patients will most benefit from a molecular patch treatment (based on their specific mutation).

How might this research impact on other neuromuscular conditions?

The findings of this research could also help scientists to understand more about the dystrophin proteins that people with Becker muscular dystrophy produce. This understanding is important for identifying possible treatments for people with this condition.

Grant information

Project leader: Dr Federica Montanaro
Institute: UCL Institute of Child Health
Condition(s): Duchenne & Becker muscular dystrophies
Duration: two years, starting 2016
Total cost: £142,457
Official title: Predicting the impact of exon skipping on dystrophin function

Further information

Find out more about exon skipping and how it works

Read about our other Duchenne muscular dystrophy research projects

Read our research news stories on Duchenne muscular dystrophy

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

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