A mutation of a gene known as CDH2, has been known to cause arrhythmogenic right ventricle cardiomyopathy (ARVC). ARVC is a genetic disorder that can predispose someone to early age cardiac arrest. This is one of a major causes for the unexpected death of healthy young people that show no signs of illness. ARVC is most seen in young healthy athletes. Athletes hearts experience overwhelming workload. Normally a healthy athletes heart would be able to hand the pressure; in the case of people with a mutation to gene CDH2 their hearts ultimately can not handle the pressure of rigorous activity and sudden cardiac arrest is experienced. The discovery of the link between the CDH2 gene and ARVC was uncovered by a South African team, researchers of the Italian Auxologico Institute of Milan and the university of Pavia. The discovery of this gene is important because discovery can lead to future genetic counseling for prevention and to inform people affected of precautionary measures. When this gene is inherited it will often cause sudden cardiac arrest and death in young adults under the age of 35. In patients with ARVC the hearts tissues are replaced with fatty and fibrous tissues this causes cardiac arrhythmia and ultimately can lead to sudden death within minutes. CDH2 produces a protein for adhesion between cardiac cells, when the mutation occurs this process dose not happen properly. As said by the researchers "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 article is extremely important due to the fact is talks about the research of uncovering a gene that is known to cause sudden death in unsuspecting healthy people and young athletes. When showing no symptoms most people hardly ever go and get well check ups or physicals. All those seemingly healthy young people however might not be so healthy. With more research coming out about genes that might predispose us to serious conditions some do not even known about it will bring light to the importance of prevention of diseases and genetic counseling.Hopefully with prevention and genetic counseling we will bring awareness to serious conditions and save lives.
For more information of sudden death in athletes visit; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC155532/.
For original article about the discovery of mutant CDHV2 gene visit: https://www.sciencedaily.com/releases/2017/03/170309150637.htm