A South African team of all-female researchers has helped identify a new gene that predisposes young people to cardiac arrest.
University of Cape Town (UCT) researcher Maryam Fish (30), and her team, collaborated with experts from Italy in the discovery of the CDH2 gene. The gene is the major cause of cardiac-related deaths.
“We sequenced all the genes in the human genome in two cousins who were affected”, said Fish. “We then looked for common variants and had a list of 13‚000 which we narrowed down through a series of filtering criteria until we got the CDH2 variant‚ which was the most likely causal variant in this family."
Researchers say sudden cardiac arrest claims the lives of more than five young South Africans daily.
The CDH2 gene causes a heart condition referred to as arrhythmogenic right ventricular cardiomyopathy.
The discovery of the CDH2 gene was made possible through whole exome sequencing; a new technique practiced by the Italian Auxologico Institute of Milan which analyses every gene in a human’s body.
This radically changed the efficiency of screening genes as it allowed for around 19,000 genes to be screened within hours.
“We called it genetics on steroids”, says researcher and part of Fish’s team Gasnat Shaboodien. “Without this technique, we would not have made this discovery”.
Professor Bongani Mayosi, the Health Sciences Faculty dean at UCT, says identifying the gene allows doctors to apply preventative techniques.
“We can implant devices inside your heart to shock you when you have abnormal heart rhythm and prevent you from dying.”
The discovery will most certainly aid in placing South Africa on the map in the world of genetic, exactly fifty years after it was placed on the map for the world’s first heart transplant.