THE GENE WHICH causes sudden death in young people and athletes has been identified.
The gene, called CDH2, causes arrhythmogenic right ventricle cardiomyopathy (ARVC), and has been isolated by researchers in Canada, South Africa and Italy.
The gene is a disorder that predisposes patients to cardiac arrest and is a major cause of unexpected death. The discovery, published in Circulation: Cardiovascular Genetics, is the result of international collaboration that began 15 years ago. It is led 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.
A team of investigators from the Population Health Research Institute of McMaster University and Hamilton Health Sciences, led by Dr. Guillaume Paré, performed the genetic sequencing, as well as the bioinformatics analysis for the study.
“This is important news for families who have had a young family member suffer a sudden cardiac death, for them to know a genetic cause has been identified,” said Paré.
Our team was happy to contribute to the finding that a mutation in CDH2 is the underlying culprit in a portion of these patients. This will pave the way for preventative interventions and genetic counselling.
For 20 years, Mayosi followed a South African family affected by ARVC that had experienced several cases of juvenile sudden death. Excluding all genetic causes known at the time, the Italian researchers sequenced all the coding regions of the genome in two ill members of the family.
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.
The researchers said identifying the gene is important because it helps to clarify the genetic mechanisms underlying ARVC, and it also makes the early detection of ARVC possible in otherwise unsuspecting people.
This may lead to a reduction of cases of sudden death in patients with the mutation, the researchers concluded.
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