Study reveals genetic heart gene in isolated Cretan villages

Scientists have revealed a genetic variant in residents of northern Crete, who despite consuming lamb and cheese don't have the prevalence of heart problems, heart attacks and strokes found in much of the western world. 

The research published by the Wellcome Trust Sanger Institute focused on villagers in the municipality of Mylopotamos, with blood drawn from 250 residents to examine their DNA, revealing a genetic variant unique to the residents of Zoniana and Anogia. 

While the villagers consume a diet rich in animal fat, the variant appears to protect their hearts by decreasing the levels of cholesterol and 'bad' fats in the body. 

Scientists set out testing the genomes of thousands of Europeans, however were only able to find the same variant in one other individual residing in Tuscany, Italy.

Published in the journal Nature Communications, researchers are not yet sure about why this genetic variant exists or how it came to be. It could in fact be influenced by a number of factors, including lifestyle and environment, or could be a possible genetic mutation that has been passed on from one generation to the next given that the populations of the two villages are isolated high up in the mountains. 

"By studying isolated populations, we are able to identify those genetic variants that are at a higher frequency compared to cosmopolitan populations and this in turn increases our power to detect if these variants are disease causing," said researcher Lorraine Southam.

"With isolated populations, we can get a unique view into rare genetic variants that play important roles in complex human diseases."

Meanwhile, scientists are now examining other isolated populations including the Amish in the United States and the Inuit in northern Greenland in a bid to see whether isolation is part of maintaining their health. 

"We are finding new genetic variants we haven't seen before," said lead author Professor Eleftheria Zeggini, adding that the results revealed in the residents of Mylopotamos show the significance of examining the entire human genome rather than individual pieces to understand the genetic architecture of a population.

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