Genetic mutation that prolongs life found in the Amish community

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It was the American scientists who recently discovered in a US-based Amish community a very rare genetic mutation that may be responding to treatments to combat aging as well as age-related diseases, including, dementia or even heart disease.

According to The Guardian, citing a study published in the journal Science Advances, the researchers responsible for the discovery detected the genetic mutation in the Amish (ultra-conservative religious community) located in the city of Berne, Indiana. It was concluded that the carriers of this genetic mutation have a better metabolism, less diseases like diabetes, and as a rule they live a decade longer than the other members of the community.

There were 177 people analyzed, and 43 people were identified as being hereditary of this same gene, some in the normal version, but others in a modified version of the name Serpine1. Individuals with the modified version live up to 85 years of age, that is, 10 years longer than those who do not have any genetic mutation present. “It’s a rare genetic mutation that seems to protect humans from biological aging”, said Douglas Vaughan, a professor of medicine and lead researcher at Northwestern University in Chicago.

Serpine1 is related to the PAI-1 protein and animal studies have already been performed that have shown that reduced levels of this protein can actually protect the wearer against aging as well as age-related diseases. It even prolongs longevity, however, so far, the same effect had not been detected in humans. It was exclusively in this group of people that this gene mutation was detected that naturally suppresses the levels of PAI-1 protein found in the blood.

Scientists looked for age markers on individuals (telomeres – structures at the ends of chromosomes that diminish with age) and with this they proved that the Amish, those who had the modified gene, also had telomeres longer than the others, which revealed that they had aged much slower than the others.

Now a drug is being tested that aims to reduce levels of PAI-1 protein in the blood, paying special attention to the fact that if this protein is not present (at all) the individual may suffer bleeding. Metformin, used in the treatment of diabetes, already interferes with PAI-1, however, researchers at Tohoku University in Japan have already started all clinical trials targeting this protein.

So, if the clinical trials are successful, Douglas Vaughan said, the drug could be used to delay the onset of aging-related diseases and become the primary treatment for patients with problems that cause premature aging. “We are very optimistic”, Vaughan said.

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