How do mutations in the beta-tropomyosin gene cause nemaline myopathy?
Project leader: Dr Charles Redwood
Location: University of Oxford
Duration of project: 3 years (starting December 2008)
Total project cost: £150,100
Official project title: Analysis of the effects on contractile function of mutations in beta-tropomyosin that cause different inherited myopathies
Congenital myopathies are a group of inherited diseases that cause muscle weakness and dysfunction. Symptoms range from mild to severe and can sometimes result in reduced life expectancy. Researchers have shown that these conditions are often caused by mutations in the genes that code for the contractile machinery in the muscle. These are the proteins that allow the muscle to contract in response to a signal from the nerve. The particular protein that Dr Redwood is interested in is called beta-tropomyosin. Mutations in the beta-tropomyosin gene have been shown to cause four different types of muscle disorder including nemaline myopathy, a type of congenital myopathy.
Dr Redwood will study different types of mutation in the beta-tropomyosin gene in order to find out how it affects the function and stability of the contractile machinery of the muscle. He will be able to compare both normal and mutated proteins in order to determine how their properties differ.
Understanding how faults in the contractile machinery can cause muscle disease is an important step forward as it will yield not only new information on the congenital myopathies but also may highlight some potential therapeutic targets for future studies.
