Now, scientists have discovered the gene responsible. Led by South African Bongani Mayosi, a professor of cardiology at the University of Cape Town and Groote Schuur Hospital, the researchers have published their findings following 20 years of study.
Mayosi followed a family that had experienced several cases of juvenile sudden death as a result of arrhythmic right ventricle cardiomyopathy (ARVC), a condition that puts otherwise healthy young people at an increased risk for cardiac arrest, for 20 years. Excluding all genetic causes known at the time, researchers of the Italian Auxologico Institute of Milan and the University of Pavia narrowed down common genetic variants. From over 13 000 of these, the gene, called CDH2, was isolated and identified.
A team of investigators from the Population Health Research Institute of McMaster University and Hamilton Health Sciences in Canada, led by Dr. Guillaume Paré, performed the genetic sequencing, as well as the bioinformatics analysis for the study. In an interview, DR Paré said that the main benefit of this research was the fact that it will “pave the way for preventative interventions and genetic counselling”.
Having found this genetic mutation will change – and extend – the lives of those prone to the disease. Not only will it make early detection possible, it will allow families who carry the gene to take preventative measures.
Today, signs of the disease only become clear after many years, leaving hundreds of thousands of young people around the world at risk. Prevention can be as simple as avoiding strenuous exercise or might require medication. Whatever the necessary preventative measures are, their implementation could mean the difference between a tragic death or a long, healthy life. Thanks to this study, doctors around the world can ensure that the tragic deaths no longer happen.
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