In 2018, Northwestern Medicine reported a genetic mutation which might protect against multiple aspects of aging had been discovered in an extended family of Old Order Amish living in Berne.

Now, an experimental “longevity” drug is being tested in human trials recreating the effect of the mutation, and scientists are scheduled to return to Berne to run blood tests and take samples from the Amish family in which the gene was located.

Amish with this mutation are shown to live 10% longer compared to Amish without the mutation, according to the Northwestern study. They also have 10% longer telomeres — protective caps at the end of their chromosomes which work as a biological marker of aging.

So what does this mutation do? Amish with the so-called immortality gene have significantly less diabetes and lower fasting insulin levels, as well as a lower vascular age, meaning their blood vessels retain more flexibility. These three things point to consistent anti-aging benefits across multiple body systems.

“For the first time, we are seeing a molecular marker of aging (telomere length), a metabolic marker of aging (fasting insulin levels) and a cardiovascular marker of aging (blood pressure and blood vessel stiffness) all tracking in the same direction in that these individuals were generally protected from age-related changes,” said Dr. Douglas Vaughan, lead author of a paper on the mutation published in the Science Advances journal. “That played out in them having a longer lifespan. Not only do they live longer, they live healthier. It’s a desirable form of longevity.”

Carriers of the mutant gene, said Vaughan, have a younger-appearing cardiovascular system with reduced pulse pressure, mostly due to their low levels of PAI-1, plasminogen activator inhibitor, a protein that comprises part of a molecular fingerprint related to aging. Experimental data in mice shows that lower levels of PAI-1 can also protect against Alzheimer’s symptoms. As such, cognitive testing will be part of future measurements taken against Amish carriers.

The mutation thus far seems to be isolated entirely to the Berne population of Amish, who initially received the gene from Swiss farmers who married into the Amish community. People with the mutation live to be 85 on average, significantly longer than the predicted average lifespan of 71 for Amish in general.

ACCIDENTAL DISCOVERY

“This is the only kindred on the planet that has this mutation,” Vaughan said. “It’s a ‘private mutation.’”

And it wouldn’t have been discovered if it weren’t for a little Amish girl who almost died due to a bleeding disorder roughly 30 years ago. In the early 1990s, Dr. Amy Shapiro of Indiana Hemophilia & Thrombosis Center learned of an Amish toddler from Berne who bumped her head and experienced unusually severe bleeding from the injury, which required a blood transfusion and surgery.

Shapiro identified the cause of the girl’s bleeding disorder as a deficiency of PAI-1. Upon testing of the girl’s parents and siblings, Shapiro found they too were affected, and a family tree was drawn up to determine how widespread this mutation might be.

Over time, several hundred members of the extended family tree were tested, and about 96 were shown to carry the gene. Most of them do not have the accompanying bleeding disorder.

Upon learning of Shapiro’s findings, Vaughan organized a 40-man group of doctors, nurses, monographers and researchers, who arrived in Berne May 5, 2015, to begin their own tests. Over the following two days, 177 Amish arrived at the scene by horse and buggy to submit for testing. Many were motivated by curiosity over the bleeding disorders they’d noticed in their family.

POSSIBLE TREATMENTS

The drug developed from these tests has been tested on bald mice with heart attacks and other pathologies caused by an excess of PAI-1. Upon administration of the drug, the bald mice began to grow hair again; a formula has been licensed for use in treating male pattern baldness.

Lab mice were also shown to live up to four times longer on the drug, which provided protection to their lungs and vascular system from age-related pathologies including emphysema and arteriosclerosis.

Vaughan’s team is set to return to Berne for more testing soon.

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