Distribution of cell-cell junction proteins in arrhythmic disorders #1
Research type
Research Study
Full title
Analysis of distribution of cell-cell junction proteins in buccal smear samples from patients with arrhythmic disorders and family members at risk as a means for diagnosis
IRAS ID
210709
Contact name
Angeliki Asimaki
Contact email
Sponsor organisation
St George's, University of London
Duration of Study in the UK
4 years, 11 months, 30 days
Research summary
Every week in the UK, 12 apparently healthy and fit individuals under the age of 35 die suddenly, a tragic event known as sudden cardiac death (SCD). We have shown that heritable cardiac disorders affect the distribution of proteins at the cardiac cell-cell junctions, the areas where cardiac cells are mechanically and electrically coupled. This knowledge has helped us diagnose specific heart disorders in individuals thus reducing the risk and incidence of SCD. Yet, the primary material required is a heart sample. A heart biopsy is an invasive process that comes with risks and is not performed unless absolutely necessary. And it is impossible to obtain a heart sample from an individual that may be carrying a disease-causing mutation (and hence be at risk of SCD) but does not yet show evidence of disease manifestation.
We recently showed that buccal cells show changes in protein distribution equivalent to those exhibited by the heart, hence providing us with a surrogate tissue for the myocardium. We aim to use buccal smears as a means to identify those at risk of SCD. Patients regularly seen at the cardiology clinics at St. George’s Hospital can participate in the study. We shall take a buccal smear simply by rubbing a soft brush at the inside of their cheek and smearing it on a slide. Most individuals willing to participate in the study will only have to provide us with a sample once. However, in selected cases (for instance, if the patients show disease progression or have a change in medication) they may be asked to provide us with a subsequent sample during one of their scheduled follow-up visits. The process takes only a few seconds, is totally risk- and pain-free and it is anticipated to have great implications in diagnosis and patient management.REC name
London - Dulwich Research Ethics Committee
REC reference
17/LO/0184
Date of REC Opinion
2 Feb 2017
REC opinion
Further Information Favourable Opinion