New gene responsible for ARVC found

16th March 2017

An international team of researchers say they have identified another gene responsible for arrhythmogenic right ventricular cardiomyopathy (ARVC).

The gene, called CDH2, is one of several found to cause ARVC which causes heart cells to be replaced by fatty and scar tissue.  This in turn can lead to heart rhythm problems.

The study, published in Circulation: Cardiovascular Genetics, is the result of a 15-year collaboration between researchers in Canada, South Africa and Italy.

One of the team, Dr Guillaume Paré, said: “A mutation in CDH2 is the underlying culprit in a portion of ARVC patients. This will pave the way for preventative interventions and genetic counselling."

The study was led by Bongani Mayosi, professor of cardiology at the University of Cape Town, who began following a South African family who had had several young deaths from ARVC.

Excluding all genetic causes known at the time, Italian researchers sequenced all the coding regions of the genome in two affected 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 patients.

CDH2 is responsible for the production of Cadherin 2 or N-Cadherin, a protein for gluing heart cells together. The gene's discovery was validated by finding a second mutation on the same gene in another patient with ARVC from a different family.

The researchers said identifying the new gene is important because it helps to clarify the genetic mechanisms underlying ARVC, and it also makes the early detection of ARVC possible in more otherwise unknowing people.

Often, symptoms of the disease only become clear after many years. However, if someone is a known carrier of a mutation on the gene CDH2, other members of his family can be identified from genetic testing and preventive treatment started immediately. This can help to reduce sudden deaths, the researchers concluded.