Science

A mutated gene found in an Amish community could unlock the secrets of ageing

The discovery could help scientists find cures for age-related disorders and diabetes.

Scientists in the US have found a genetic mutation in the Amish community which may hold the key to fighting ageing.

The research by Northwestern University studied 177 members of the Old Order Amish community in Berne, Indiana, of whom 43 carry an extremely rare mutation of one of their two Serpine1 genes.

The null mutation effectively “switches off” the gene it affects, and those carrying it have been proven to live up to 10 years longer than those who do not carry it. Carriers were also less likely to develop diabetes and had better metabolisms.

The Serpine1 gene is responsible for telling the body to produce a protein, PAI-1, which helps in blood clotting.

In mice, high levels of the PAI-1 protein contributed to ageing quickly, and dying of heart attacks early in their lives, but the effect of the protein on humans was not proven.

“For the first time we are seeing a molecular marker of ageing (telomere length), a metabolic marker of ageing (fasting insulin levels) and a cardiovascular marker of ageing (blood pressure and blood vessel stiffness) all tracking in the same direction in that these individuals were generally protected from age-related changes,” Dr Douglas Vaughan, who managed the research, said.

“That played out in (the Amish) having a longer lifespan. Not only do they live longer, they live healthier. It’s a desirable form of longevity. It’s their ‘health span’.”

One mutated gene may be desirable, but people with null mutations in both Serpinel1 genes often suffer from bleeding disorders.

Dr Vaughan has teamed up with Dr Toshio Miyata, from Tohoku University, to develop an oral drug to lower PAI-1 production. They hope to test it in the US within the next six months, following FDA approval.

Researchers are also planning to follow up on the study with the same group to find out more about Type 2 diabetes. Seven percent of those in the community without the gene mutation had diabetes, whereas no-one with the null mutation of the Serpine1 gene suffered from the disease.

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