How do mutations in the beta-tropomyosin gene cause nemaline myopathy?

Dr Redwood, based at the University of Oxford, has been awarded a grant to investigate how mutations in a particular structural protein act to cause nemaline myopathy, a type of congenital myopathy.
Dr Redwood, based at the University of Oxford, has been awarded a grant to investigate how mutations in a particular structural protein act to cause 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.

 

 

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

 

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