Epigenetics and Hypertrophic Cardiomyopathy
Research type
Research Study
Full title
Epigenetics and Hypertrophic Cardiomyopathy: Investigating the relationship between DNA methylation and phenotype expression in individuals with disease-causing mutations associated with HCM.
IRAS ID
306217
Contact name
Chris Watson
Contact email
Sponsor organisation
B22/02
Duration of Study in the UK
3 years, 0 months, 3 days
Research summary
Hypertrophic cardiomyopathy is a condition where the heart muscle becomes abnormally thickened. This is a genetic condition that can be passed on within a family and there are many different gene mutations associated with hypertrophic cardiomyopathy.
The thickened heart muscle can make pumping blood around the body more difficult for the heart and result in symptoms including shortness of breath, chest pain, fainting and abnormal heart rhythms. Some abnormal heart rhythms can be life threatening and a small number of people with hypertrophic cardiomyopathy are at risk of sudden cardiac death. It is known that within families there are individuals who share the same gene mutation, or genotype, but not every person is clinically affected by hypertrophic cardiomyopathy to the same extent. Some family members may have more severe hypertrophic cardiomyopathy and the reason for this is not well understood at the moment. We hope to learn more about this by investigating the effect of DNA methylation on disease expression.
We will include people who have a known genetic mutation that causes hypertrophic cardiomyopathy. We would access information already gathered as part of normal clinical follow-up including; genetic tests, 24-hour electrocardiograms (ECG), echocardiogram heart scans and magnetic resonance imaging (MRI) heart scans where possible. We will take a sample of blood and saliva to carry out tests in the laboratory to assess DNA methylation. With the results from these tests we will be able to examine whether there is a link between DNA methylation and how severely individuals are affected with hypertrophic cardiomyopathy.
Gaining a better understanding of what influences the development of more severe types of hypertrophic cardiomyopathy is important for progress in its management. Information gained from this study could be used to provide better prediction of the risk of severe disease for individuals with hypertrophic cardiomyopathy.REC name
HSC REC A
REC reference
22/NI/0105
Date of REC Opinion
27 Jul 2022
REC opinion
Further Information Favourable Opinion