A team of researchers has discovered a gene that can cause premature death in apparently healthy young people. This killer gene has been termed as CDH2 by the group of researchers.
According to Eurekalert, CDH2 causes arrhythmogenic right ventricle cardiomyopathy (ARVC), a genetic disorder that leads patients to cardiac arrest. It is also the major cause of unexpected death of young people. It is a form of inherited cardiomyopathy which leads to a sudden cardiac arrest in people as young as 35 years of age.
In ARVC, the heart tissue is replaced by a fatty and fibrous tissue, inducing the development of cardiac arrhythmias such as tachycardia and ventricular fibrillation, which causes loss of consciousness and cardiac arrest. A person affected by ventricular fibrillation is prone to death in a few minutes in absence of a ready electrical defibrillation.
CDH2 is meant accountable for the production of Cadherin 2 or N-Cadherin, a key protein responsible for the normal adhesion of the cardiac cells. The discovery of CDH2 was made valid after finding a second mutation on the same gene in a different patient with ARVC from a different family. The researchers say that the gene's identification is necessary in order to clarify the genetic mechanisms underlying ARVC. This is also helpful for the detection of ARVC in unsuspecting people.
According to SABC, ARVC leads to the sudden death in athletes as the disease speeds up with intense physical exercise such as running. Researchers say that an early diagnosis of the disease and evasive actions taken can keep the disease at bay for the athletes.
The discovery of CDH2 can show a new horizon in the diagnosis and possible treatment of heart muscle disease in the near future, say the researchers. There are a number of deaths occurring all over the world due to heart-related diseases. The researchers are of the opinion that the discovery and analysis of CDH2 can be a breakthrough in preventive interventions and genetic counseling of heart-related diseases.