Researchers from the Canada, South Africa and Italy have identified a newer gene which can lead to sudden death among young people and athletes.
Gene which is called CDH2 is causing arrhythmogenic right ventricle cardiomyopathy (ARVC).
It is a kind of genetic disorder which predisposes patients to cardiac arrest. Even it is a major cause of the unexpected death in seemingly healthy young people.
Genetic Sequencing and Bioinformatics Analysis:
Discovery is published in Circulation: Cardiovascular Genetics. This discovery is a result of the international collaboration which began 15 years ago.
This study was led by the South African team being headed by Bongani Mayosi. He is a professor of cardiology at the University of Cape Town and Groote Schuur Hospital.
With that other researchers were from Italian Auxologico Institute of Milan and University of Pavia. Teams of investigators were from the Population Health Research Institute of McMaster University and Hamilton Health Sciences.
It was led by Dr. Guillaume Pare who performed the genetic sequencing and bioinformatics analysis.
Pare is an associate professor of pathology and molecular medicine with Micheal G. DeGroote School of Medicine.
He says, “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.”
Further adding to the same he says, “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 counseling.”
There are about 40,000 cardiac arrests in Canada each year according to the Heart and Stroke Foundation of Canada. It includes even less than one in 10 people are estimated to survive cardiac arrest which happens outside hospital.
Causes of Sudden Cardiac Arrest:
Inherited forms of the cardiomyopathy is often causing sudden cardiac arrest death in young people. These people are usually under the age of 35.
In ARVC, heart tissues are replaced by means of fatty and fibrous tissue. This process further encourages development of cardiac arrhythmias. They include such as tachycardia and ventricular fibrillation.
It is causing loss of consciousness and cardiac arrest. In the case of ventricular fibrillation, without having ready electrical defibrillation it is causing sudden death in a few minutes.
For about 20 years, Mayosi has followed a South African Family which was affected by ARVC. They have experienced several cases of juvenile sudden death.
While excluding all the genetic causes known at the time, Italian researchers sequenced all coding regions of the genome.
It was done in a two ill members of the family. 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 responsible for the production of Cadherin 2 or N-Cadherin. It is a key protein for normal adhesion between the cardiac cells.
Gene’s discovery was validated by means of finding a second mutation on the same gene in another patient. That patient was with ARVC and was from a different family.
It was known from the previous studies that genetically modified mice without this protein are tending to have malignant ventricular arrhythmias and sudden death. Researchers says that identifying the gene is important.
This is mainly because it helps in clarifying the genetic mechanisms which underlies ARVC. It even makes the early detection of ARVC possible in otherwise unsuspecting people.
Often, the diagnostic clinical signs of the disease are only getting clear after many years.
Yet, if a subject with ARVC is a carrier of mutation over the gene CDH2, other members of his family who were affected genetically can be identified within few weeks.
Thus preventive strategies can be started immediately. This may further lead to the reduction of the cases of sudden death in patients with mutation.