Indiana Amish community's genetic mutation adds ten years to life

A rare genetic mutation in the SERPINE1 gene (c.699_700dupTA) has been identified in a small Amish community in Adams County near Berne, Indiana. Researchers from Northwestern University, led by cardiologist Douglas Vaughan, found that 43 of the 177 community members studied carry the mutation, which halves the production of the PAI‑1 protein. These carriers live on average ten years longer than their neighbors and show no cases of diabetes.

The findings were published in 2017 in Science Advances and suggest that reduced PAI‑1 activity may protect against age‑related metabolic and cardiovascular disease. The discovery has spurred interest in developing drugs that mimic the mutation’s effect, with a candidate already in phase‑2 clinical trials.