Most of the young people and athletes facing unexpected death due to sudden cardiac arrest. One of the rare genetic disorders, Arrhythmogenic Right Ventricle Cardiomyopathy (ARVC) is found to be the one that inclined the patient’s to cardiac arrest.
An international collaborative research led by the researchers in Canada, South Africa and Italy has successfully identified a novel gene – CDH2, which is responsible for ARVC that leads to sudden death amongst young people and athletes. The study was carried out by a South African team headed by Bongani Mayosi, a professor of cardiology at the University of Cape Town and Groote Schuur Hospital, along with researchers of the Italian Auxologico Institute of Milan and the University of Pavia. The genetic sequencing and the bioinformatics analysis for this study were done by a team of investigators from the Population Health Research Institute of McMaster University and Hamilton Health Sciences, led by Dr. Guillaume Pare.
Bongani Mayosi monitored a South African family for 20 years. They were affected by ARVC that had experienced several cases of young sudden death. The Italian researchers sequenced all the coding regions of the genome in two ailing members of the family, eliminating all genetic causes known at the time. The genetic mutation responsible for the disease in the family, CDH2, was narrowed down from more than 13,000 common genetic variants present in the two ill patients.
CDH2 is liable for the production of Cadherin 2 or N-Cadherin, a key protein for normal adhesion between the cardiac cells. They validated the gene’s discovery by finding a second mutation on the same gene in another patient with ARVC from a different family. Agreeing to their previous studies, it was known that genetically modified mice without this protein tend to have malignant ventricular arrhythmias and sudden death.
The researchers concluded identifying the gene is important in clarifying the genetic mechanisms underlying ARVC, and it also makes the early detection of ARVC possible in otherwise unsuspecting people. They stated, this study may lead to reduction of cases of sudden death in patients with the mutation.