The Secret of the Rare, Age-Defying Amish Gene Mutation

Fagjun | Published 2017-11-18 07:31

A rare gene mutation that arose in an Amish population seems to be able to extend life spans by ten years and even protect against diabetes.

A genetic mutation in an Amish community may hold the key to fighting the health effects of ageing.



Six generations ago, in an Old Order Amish community in the town of Berne, Indiana, a faulty variant of the SERPINE1 gene arose. The SERPINE1 gene is responsible for creating a protein called PAI-1, which promotes ageing. However, carriers of a copy of the faulty gene have been found to produce just half of the amount of the PAI-1 protein that the normal gene does. According to a new study, carriers have better metabolism, fewer chances of developing diabetes, and typically live to the age of 85.


The discovery of this gene mutation may help scientists gain new insight into combating ageing as well as the development of treatments for age-related disorders like heart disease and dementia.

A Beneficial Mutation

An illustration of the PAI-1 protein



Studies on animals have shown that reducing the PAI-1 protein can help fight ageing, age-related diseases, and even prolong lifespans. Before now, however, this same effect hasn’t been seen in humans.


This is what makes the participants in the study quite special. Researchers studied the gene in 177 members of an Amish community in Berne. 43 of these participants carried at least one copy of the altered gene, as well as an unaltered copy. This natural mutation suppresses the production of the PAI-1 protein in the blood, and so far only the 43 members of this community are known to possess the mutation.


When researchers found that the carriers of the altered gene had just 50% of the PAI-1 protein, they looked at the biological markers of aging. Telomeres, which are found at the ends of our chromosomes, get shorter with age. Researchers found that the carriers of the mutation had longer telomeres than their peers that don’t possess the same mutation. This suggests that the carriers aged more slowly.


A small group in the community were found to have two copies of the mutated gene, and the researchers detected no PAI-1 at all in their blood. However, this may not actually be a good thing, since the double mutation may cause a bleeding disorder.

New Anti-Ageing Drugs

Do we now have more of a chance to age better?



It’s not clear yet if the double mutation can shorten or also prolong lifespans. The oldest person in the study with the double mutation is only 30 years old, and is thus too young to be able to exhibit how the double mutation affects ageing. It’s possible, however, that the two extremes of having the PAI-1 protein--all of it or none at all--isn’t the best for anyone. The “sweet spot” may lie somewhere in the middle of the two extremes.


There are already trials for drugs that aim to reduce PAI-1 levels in the blood. Reducing PAI-1 levels is an effect of the diabetes drug metformin, but the new drug is meant to make PAI-1 its main target. Of course, this new drug, if successful, won’t make us youthful until we die. It will, however, make it possible for us to delay the onset of age-related diseases.

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