Genetic Mutation in Amish Population Protects against Baldness, Fights Aging
등록일 2019년 01월 07일 목요일
수정일 2017년 11월 16일 목요일

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Because they have been genetically isolated for more than 100 years, a population of Amish who live in Berne, Indiana, turned out to have a genetic mutation that protects them from aging.Those who carried the mutation lived longer by an average of 10 years compared to those who do not have the mutation.

The mutation protects the members of the isolated community from diabetes and other age-related ailments.Using this discovery, scientists at Northwestern University are conducting trials among humans a drug that mimics the effects, New Atlas reported.

Longer telomeres

The genetic mutation caused the telomeres – the protective caps on the ends of chromosomes that shorten with age – to become longer by 10 percent than the average.The population also registered much lower fasting insulin levels.

Douglas Vaughn, the lead author of the study, said the findings surprised them because the anti-aging benefits across multiple body systems were consistent.He said that for the first time, they saw a molecular marking of aging – the length of telomere – and a metabolic marker of aging, fasting insulin levels, tracking in the same direction.

He also cited a cardiovascular marker of aging, referring to blood pressure and blood vessel stiffness, moving in the same direction in these individuals who were generally protected from age-related changes.These factors played out in members of the isolated Amish population having a longer lifespan.

Vaughn noted that the members of that Amish community not only live longer, they also live healthier which is a desirable form of longevity that he described as a health span.

PAI-I protein

Behind these health benefits enjoyed by members of the Amish community is the plasminogen activator inhibitor-1 a protein.It is linked to aging in other animal models.Vaughn said that the Amish individuals who have the mutation have lower levels of the PAI-1 protein, Science Mag reported.

But having too little of the protein also is a problem.Scientists, after all, noticed that some members of the Old Order Amish community had issues with severe bleeding after injuries.Because of this problem, a young girl almost died from excessive bleeding in the early 1990s after she bumped her head.When she was examined, doctors found she has a rare bleeding disorder because of PAI-1 deficiency.Physicians conducted more tests on the girl's immediate family and discovered that it was a genetic condition.

They have two mutated copies of a particular gene that causes the absence of the PAI-1 protein in the blood.Because protein has a role in clotting, having no PAI-1 led to the bleeding problem.But most of the members of the Amish community only have one copy of the mutated gene which explains why they did not have bleeding problems.

Gateway to investigate the impact of PAI-1 deficiency

Vaughn said that the incident with the bleeding Amish girl was the gateway that allowed medical experts to assess the effect of a partial PAI-1 deficiency over a lifetime.After Northwestern researchers read over the papers published in the 1990s that described the mutation, it led them to study the effect on cardiovascular health and aging in general.

When they studied the mutation in the laboratory and read materials on the science of aging, it kept pointing to a relationship between PAI-1 and aging.Vaughn cited a previous study on rodents that said a partial deficiency of PAI-1 protected against aging-like changes.

Testing on humans

To test it on humans, the Northwestern investigators opened a temporary facility in a community center and conducted a series of tests on 177 Amish people from the Old Order community.The tests included echocardiograms, systolic blood pressure, pulse wave velocity, and pulmonary function tests.The urine, blood, and fibroblast samples of the participants were also taken, The New York Times reported.

The focus of the study were individuals with only one mutant copy of the gene since they were double the number of community members with the PAI-1 as a base group with two normal copies of the gene.

About seven percent of the base group members were diabetics.Given these numbers, the scientists expected that three or four percent of those who have the mutation would have the chronic ailment, but it turned out to be zero percent.

The protection from diabetes was not the only health benefit the people with the mutation enjoyed.They also showed fasting insulin levels 30 percent lower than normal, cardiovascular systems that appeared to be much younger than those who were not affected, and reduced pulse pressure that are indicators of more flexible arteries.

The researchers then partnered with Renascience, a Japanese firm, to develop drugs that inhibit PAI-1 to achieve some of the anti-aging benefits that the Amish enjoyed.When the Northwestern scientists tested the drug on mice engineered to overproduce PAI-1, the bald mice even re-grew hair which even surprised the investigators.The drug was given to 160 people in Japan where the phase 1 human trials were recently completed.

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