The findings demonstrate the utility of studying mutations in populations with geographic and genetic isolation, and shed light on a novel therapeutic target for aging. In fact, carriers of the mutated gene live, on average, a whopping 10 years longer.
A particular mutation identified among Old Order Amish in IN is associated with a longer life span, improved metabolism and a lower occurrence of diabetes, according to a new study.
The mutation causes these 43 members of the community - out of a total of 177 - to have comparatively low levels of a protein called "plasminogen activator inhibitor-1".
Researchers are also planning to follow up on the study with the same group to find out more about Type 2 diabetes. Senescence is increasingly thought to be a strong driver of the ageing process.
Researchers in the USA and Japan are now testing an experimental drug that aims to recreate the effect of this mutation in people, in the hopes it may protect against age-related illnesses and boost longevity.
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So, Vaughan plans to seek permission from the U.S. Food and Drug Administration to start a trial in the United States as early as next year to examine the effects of using the drug to lower PAI-1 in people who are obese or insulin-resistant. SERPINE1 is "not convincingly a longevity gene", Barzilae, who was not involved in the research, told Science. The scientists went on to look at biological markers for ageing, known as telomeres, in the individuals. Telomere length has always been associated with aging because they shorten every time a cell divides, and shorter telomeres are related to advanced aging. Telomeres are tiny caps that tip the ends of chromosomes and which get shorter with age.
Tests found a range of health benefits in those who carried the mutation, including better metabolic health, lower levels of diabetes, and a longer lifespan.
But having one mutated copy of the gene may actually prove beneficial, according to the new study. The oldest affected person is only about 30 years old, so researchers can not yet tell what impact the double mutation might have on lifespan.
Trials are already underway into drugs that can slightly reduce blood levels of PAI-1.
Dr Vaughan has teamed up with Dr Toshio Miyata, from Tohoku University, to develop an oral drug to lower PAI-1 production. "We are very optimistic about its potential role not just in slowing ageing but in reducing age-related morbidities", Vaughan said.