By Tamar Kahn, 10 March 2017, businesslive.co.za.
The hereditary heart disease finding may be one of the biggest breakthroughs in South African cardiology.
A South African family with a rare form of hereditary heart disease has helped scientists identify a new gene responsible for sudden-death syndrome, a condition that causes otherwise healthy young people and athletes to go into cardiac arrest.
The discovery of the role of Cadherin-2 (CDH2) in an incurable disorder, arrythmogenic right-ventricular cardiomyopathy (ARCV), solves a 20-year mystery and offers hope of new tests for people at risk.
CDH2 joins a group of eight other genes already linked to ARCV, a condition that increases the risk of an abnormal heart beat and sudden death.
“This is probably the biggest breakthrough in South African cardiology since Chris Barnard’s first heart transplant”, said Prof Bongani Mayosi, dean of the faculty of health sciences at the University of Cape Town (UCT) and lead author of a paper describing the find published on Thursday in peer-review journal Circulation Cardiovascular Genetics. “This discovery … will permit the diagnosis and possible targeted treatment of heart muscle disease in the future.”
Mayosi’s team had since 1996 been puzzling over the cause of a family’s hereditary ARCV, which they knew
affected at least five relatives.
No one in the family had any of the known genetic mutations linked to ARCV, but without the right technology finding others was like hunting for a needle in a haystack, said UCT researcher Gasnat Shaboodien. Only with the advent of whole-exome sequencing, a technique for sequencing all of the protein-encoding parts of the genome, were scientists able to home in on the culprit, she said.
Previous studies had shown genetically modified mice without CDH2 had malignant ventricular arrhythmias, she said.
The next step would be to develop a test that added mutations in CDH2 to the others known to be linked to heart conditions, Shaboodien said.