Rare Amish genetic mutation may point way to anti-aging treatment

Study of Indiana community finds those with a single variant version of Serpine1 live on average 10 years longer, with better metabolic health

Illustrative: Amish people in Pennsylvania. (Andrea Izzotti/iStock via Getty images)
Illustrative: Amish people in Pennsylvania. (Andrea Izzotti/iStock via Getty images)

Scientists discovered a rare genetic mutation in an Amish community which prolongs life by an average of 10 years and prevents age-related illnesses, according to a study published Wednesday.

An Amish community in Indiana is the only known group to have the mutation in the gene called Serpine1. Those who inherit a pair of mutated genes have impaired blood-clotting ability which can prove fatal. However those with just one mutated copy of the gene were found in the study to have better metabolic health, lower risk of diabetes, and to live a decade longer than the community average.

In research published in Science Advances, scientists studied 177 members of the Old Order Amish from Berne, Indiana, including 43 with only one mutated gene.

This Amish community is mostly descended from a single couple who emigrated from Switzerland to Indiana six generations ago.

“This is a rare genetic mutation that appears to protect against biological aging in humans,” said Douglas Vaughan, who led the research.

Serpine1 provides instructions for the body to manufacture the plasminogen activator inhibitor type 1 (PAI-1) protein which destroys dangerous blood clots in the body. But it also appears to be prevent cellular senescence, when cells enter a state of suspended animation, which is thought to be a major contributor to the aging process.

Senescence shows itself as a shortening of telomeres — the caps on the ends of chromosomes that wear away with age.

Those with a single mutated gene were found to have 50 percent less PAI-1 in their blood, and significantly longer telomeres, suggesting they age more slowly.

By tracking three generations of family histories, scientists found that those with a single mutated gene lived to an average age of 85, significantly longer than their peers.

“Future studies will provide the opportunity to investigate… the development of incident diabetes and other age-related diseases, and perhaps ultimately differences in health and life span in humans,” the authors wrote.

However, not all scientists agree with the findings.

Geriatrician Nir Barzilai of Albert Einstein College of Medicine in New York City told Science Magazine he was not convinced by the study. He told the magazine the current study was carried out on a very small sample, which limits its value.

Along with colleagues, he studied a different gene variation which also boosted lifespans by an average of 10 years, in four groups of people including Ashkenazi Jews and a different Amish community. SERPINE1 “is not convincingly a longevity gene,” he said.

Researchers in Japan are currently running clinical trials of a molecule that blocks PAI-1 as a treatment for diabetes, but Vaughan says it may also help people suffering from obesity or an age-related metabolic condition.

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