All-female Cape Town team cracks heart attack gene code

1 year ago written by

In yet another breakthrough medical discovery in South Africa, an all-female team of researchers in Cape Town has cracked the heart-attack gene code exactly 50-years after the first heart was transplanted in the same city.

Pan-African development website quotes The Cape Times and Rand Daily Mail in reporting 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.

It was in 1967 that the world’s first successful heart transplant was performed in Cape Town. Now the young woman from Landsdowne on the Cape Flats lead a team who cracked the heart-attack gene code and could prevent hundreds, if not thousands, of cardiac-related deaths every year.

The discovery of a gene that is a major cause of sudden death among under-35s 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.

ElicitAfrica says the “culprit gene” is called CDH2. 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.

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