Genetic Key to Longevity Discovered in Indiana’s Amish Community

A rare genetic mutation responsible for longer lifespans has been identified within the historically insular Amish community in Indiana.

A gene known as “SERPINE1” is “one of the first clear-cut genetic mutations in human beings that acts upon aging and aging-related disease,” according to Northwestern University Feinberg School of Medicine’s Dr. Douglas Vaughan, one of the lead researchers in a study that examined members of this unique Amish community.

While the “plasminogen activator inhibitor-1” protein coded by SERPINE1 may play a role in both diabetes and Alzheimer’s Disease, PAI-1 also plays a direct role in aging. The unique mutation virtually eliminates the hazardous protein from building in the body. According to Vaughan, there are “a number of factors that drive PAI-1 production in the body, including glucose and insulin and inflammation and oxidative stress. All of those factors, in a roundabout way, contribute to aging, and they all sort of converge on PAI-1.”

Vaughan and a roughly 40-person team genetically tested almost 200 members of this specific Indiana Amish community, as well as checking heart and lung function. The doctor was concerned about the famously withdrawn religious community’s willingness to participate, but found that they were “very cooperative and willing to undergo some pretty intensive testing.” He called it a “very gratifying and wonderful opportunity” and the “experience of a lifetime.”

Dr. Toshio Miyata of the Tohoku University Graduate School of Medicine in Japan, as well as one of the participating authors in the study, is also beginning trials of a drug that mimics the effects of SERPINE1. And while Vaughan is not directly involved in those trials, he has confidence that “we can develop a drug that actually inhibits the protein and provides a similar benefit as the genetic deficiency does in the Amish.”

While this is a far cry from the “fountain of youth” so long pursued by scientists and pharmaceutical companies alike, it may very well be the key to preventing or reversing serious long-term health concerns, and tangibly improving the quality of life of our elderly citizens.

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