Fifty years after South Africa performed the world’s first successful heart transplant, a young woman from Landsdowne on the Cape Flats has lead a team who have cracked the heart-attack gene code and could prevent hundreds, if not thousands, of cardiac-related deaths every year.
The Cape Times reports that Maryam Fish, 30, of Lansdowne, led the all-female team of researchers at the University of Cape Town, along with Gasnat Shaboodien and Sarah Krause, who made the discovery with researchers from Italy.
The discovery of a gene that is a major cause of sudden death among people under 35 is likely to put South Africa on the map in the world of genetics, showing that the country ‘is on par with international researchers’, the Rand Daily Mail writes online.
The culprit gene is called CDH2 and it is found in every human body. But a mutation causes a genetic disorder known as arrythmogenic right ventricle cardiomyopathy (ARVC), which increases the risk of heart disease and cardiac arrest. Sudden cardiac death is estimated to hit more than five young people in South Africa daily, according to the Medical Research Council.
In under-35s, an inherited form of disease of the heart muscle plays a prominent role in fatalities as a result of cardiac arrest. According to Fish, a PhD graduate, her team sequenced all the genes in the human genome in two cousins who were affected after a 22-year-old relative died suddenly.
“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.”
The team then screened the gene in a number of unrelated individuals who also had ARVC. This added “more evidence to our case that the CDH2 gene was the causal gene for ARVC”.
Announcing the discovery, UCT Dean of Health Bongani Mayosi likened its importance to the first heart transplant, performed by Dr Christiaan Barnard at Groote Schuur Hospital in Cape Town in 1967.