The UK BioIndustry Association ‘Celebrating UK Bioscience’ campaign highlights the impact that the UK bioscience industry makes on delivering ground-breaking treatments to patients. Here we take a look at Duchenne muscular dystrophy (DMD), a fatal muscle-wasting condition. BIA member Summit Therapeutics, a biotechnology company based in Oxfordshire is developing a potential treatment approach, known as utrophin modulation, to slow or stop disease progression.

Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting condition, caused by the lack of a protein called dystrophin.

Dystrophin acts as a molecular shock-absorber for muscle fibres. Without it, muscle fibres break down and are replaced by fibrous and/or fatty tissue causing the muscle to weaken gradually. Not only does the condition impact on muscles used for movement, but also on the heart and respiratory muscles. There is currently no cure for the disease, which affects around 2,500 people in the UK. The average life expectancy is around 30 years old.

 

muscle-fibre-with-dystrophin

 

DMD is a genetic condition that can be caused by a range of mutations in the dystrophin gene, located on the X chromosome. Females have two copies of the X chromosome, while males have an X and a Y. This means the condition primarily affects males, but women can be carriers of the disease with one affected X chromosome. Usually female carriers do not show signs of the disease because they have a second X chromosome that can compensate by producing the dystrophin protein that the body needs.

Up to one third of new cases of DMD arise in patients with no familial history due to spontaneous mutations in their dystrophin gene.

Summit Therapeutics, a biotechnology company based in Oxfordshire is developing a potential treatment approach, known as utrophin modulation, to slow or stop disease progression.

Utrophin is a naturally occurring protein that is functionally and structurally similar to dystrophin. Utrophin is produced during the early stages of muscle fibre development but is switched off in maturing muscle fibres, at which point dystrophin is produced to perform the same functional role.

utrophin-modulation

Summit Therapeutics aim to modulate, or change, how utrophin is produced in boys and men with DMD. The approach aims to use small molecule drugs to maintain the production of utrophin to compensate for the absence of dystrophin in order to maintain and protect healthy muscle function.

Watch our video and hear more about the research from Summit Therapeutics, Muscular Dystrophy UK and Charmaine Twine, whose two sons Josh and Ethan have DMD.

You can also download our accompanying infographic here.