THERE IS A tiny population of people from a Greek village who are known to live unusually long lives – but, previously, nobody knew why.
This weekend, scientists revealed they had discovered a genetic variant which explained how the men and women of Mylopotamos in northern Crete stayed healthy despite a diet rich in animal fat (normally associated with health complications).
The genetic variant they found during testing of the isolated population actually protects the heart against cardiovascular disease.
In an attempt to solve the puzzle of their old age, scientists made a genetic portrait of the population by sequencing the entire genome of 250 individuals to get an in-depth view.
This was the first time the Mylopotamos villagers had their whole genome sequenced.
Genome sequencing is figuring out the order of DNA nucleotide in a genome. The human genome is made up of over 3 billion genetic letters.
Scientists at the Wellcome Trust Sanger Institute discovered a new genetic variant that was not previously known to have positive cardiovascular qualities.
The variant (rs145556679*) was associated with lower levels of both bad natural fats (triglycerides) and bad cholesterol (very low density lipoprotein cholesterol). These factors lower the risk of cardiovascular disease.
Scientists believe that the variant is almost unique to the Mylopotamos population.
The genome sequencing results of a few thousand Europeans has only revealed one copy of this variant in a single individual in Tuscany, Italy.
A separate variant in the same gene has also been found to be associated with lower levels of bad natural fats in the Amish population in the US.
“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,” Lorraine Southam, author at the institute, said.
The combination of genetic data from isolated populations presented statistical complications due to the relatedness of individuals.
The team also studied an isolated population from the mountainous villages in the Pomak region of northern Greece.
They discovered four separate genetic variants that affect diastolic blood pressure, fasting glucose levels, white blood cell count and haemoglobin levels.
Professor Eleftheria Zeggini from the institute said: “This study shows the importance of looking at the entire genome to better understand the genetic architecture of a population.
“We are finding new genetic variants we haven’t seen before. We have discovered a medically relevant genetic variant for traits related to cardiovascular disease, the most common cause of death worldwide.”
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