Characterisation of novel cardiac troponin I mutants in HCM
Research type
Research Study
Full title
Characterisation of novel cardiac troponin I mutants associated with human hypertrophic cardiomyopathy
IRAS ID
274759
Contact name
Robert Cooper
Contact email
Sponsor organisation
Liverpool Heart and Chest NHS Foundation Trust
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Inherited heart diseases are problems with heart tissue that affected people are born with. One such disease called hypertrophic cardiomyopathy (HCM) can make your heart muscle stiff, which makes it harder for your heart to pump blood out of your heart and around your body. People with such diseases can experience shortness of breath, chest pain, palpitations, fainting and sometimes abnormal heart rhythms with a greater risk of sudden cardiac death.
Recent genetic studies in patients have identified mutations in a protein called "troponin" (Tn) suggesting that when Tn does not work correctly, the heart muscle wall becomes thickened and cardiac problems can develop. However, how Tn mutations lead to these dysfunctions remains unclear. This collaborative project between the University of Liverpool and the Liverpool Heart and Chest Hospital aims to determine why these mutant versions of Tn affect cardiac muscle contraction using scientific methods to examine in detail how the Tn mutants are different from the normal protein. We will use scientific methods in the laboratory and clinical data obtained from HCM patients (cardiac imaging and exercise test routinely performed at the hospital) to better understand why these people have a malfunctioning heart and will open ways to future drug design to improve treatment of these heart diseases.REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
22/NE/0046
Date of REC Opinion
11 Apr 2022
REC opinion
Further Information Favourable Opinion