Rare Gene Mutation Linked to Longer Lifespan in Amish

A rare loss-of-function mutation in a gene called SERPINE1 identified among Old Order Amish in Indiana is associated with a longer lifespan, improved metabolism and a lower occurrence of diabetes, according to a Northwestern University-led study published this week.

Amish family riding in a traditional Amish buggy in Lancaster County, Pennsylvania. Image credit: Utente.

Amish family riding in a traditional Amish buggy in Lancaster County, Pennsylvania. Image credit: Utente.

Aging remains one of the most challenging biologic processes for scientists to unravel, due in part to the many interrelated molecular and cellular changes it brings.

One indicator of aging is the shortening of telomeres, caps at the end of strands of DNA that protect chromosomes of an individual.

Progressive shortening of telomeres leads to senescence, or biological aging.

Senescent cells and tissues exhibit a distinctive pattern of protein expression, including increased production of plasminogen activator inhibitor-1 (PAI-1).

To further examine the role of PAI-1 in human longevity, Dr. Sadiya Khan of the Northwestern University Feinberg School of Medicine and co-authors studied 177 members of the Berne Amish community, which included 43 carriers of a nonfunctional copy of the gene SERPINE1 (encodes PAI-1).

Carriers of this mutation lived an average of 10 years longer than other individuals in the community, according to the team.

Whats more, they had a 10% longer average white blood cell telomere length, after adjusting for age, sex, and familial relatedness compared with non-carriers.

“Future studies will be needed to investigate the contribution of PAI-1 to individual telomere shortening over time, the development of incident diabetes, and other age-related diseases, and perhaps ultimately differences in health and lifespan in humans,” Dr. Khan and colleagues said.

“Our findings demonstrate the utility of studying loss-of-function mutations in populations with geographic and genetic isolation and shed light on a novel therapeutic target for aging,” they added.

The study was published in the November 15, 2017 issue of the journal Science Advances.

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Sadiya S. Khan et al. 2017. A null mutation in SERPINE1 protects against biological aging in humans. Science Advances 3 (11): eaao1617; doi: 10.1126/sciadv.aao1617

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