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Amish Mutation Protects Against Diabetes and May Extend Life
Amish people living in a rural part of Indiana have a rare genetic mutation that protects them from Type 2 diabetes and appears to significantly extend their life spans, according to a new study.
The findings, published on Wednesday in the journal Science Advances, shed light on the processes underlying cellular aging and could lead to new therapies for chronic diseases, some experts say. The researchers are planning at least one follow-up trial that will recreate the effects of the mutation so they can study its impact on obese people with insulin resistance, a precursor to diabetes.
The mutation described in the new paper affects a mysterious protein called plasminogen activator inhibitor-1, or PAI-1, that is known primarily for its role in promoting blood clotting. The mutation was first identified in 1991 in a secluded Amish farming community in Berne, Ind. An estimated 5 percent of the community carries the mutation, which causes them to produce unusually low levels of PAI-1.
Scientists have long suspected that PAI-1 has other functions outside of clotting that relate to aging. Dr. Douglas Vaughan, a cardiologist at Northwestern medical school, noticed, for example, that mice that had been genetically engineered to produce high levels of the protein age fairly quickly, going bald and dying of heart attacks at young ages. People who have higher levels of the protein in their bloodstreams also tend to have higher rates of diabetes and other metabolic problems and to die earlier of cardiovascular disease.
Also at Science Magazine, which notes a possible downside to the mutation:
The girl, who lived in an Indiana Amish community, nearly bled to death during what should have been routine scalp surgery. Now, more than 20 years later, scientists studying her and other Amish have discovered that the mutation that nearly killed her could have a good side. She harbors two mutant copies of a gene, and therefore lacks a protein that manages blood clotting, but researchers found that people with one inactivated gene copy outlive their peers by a decade and gain protection against diabetes.
A null mutation in SERPINE1 protects against biological aging in humans (open, DOI: 10.1126/sciadv.aao1617) (DX)
(Score: 3, Interesting) by legont on Friday November 17 2017, @03:11PM (2 children)
How could an article like this not even mention https://en.wikipedia.org/wiki/Haemophilia. [wikipedia.org] Is it the same? Different? Why different?
"Wealth is the relentless enemy of understanding" - John Kenneth Galbraith.
(Score: 2) by HiThere on Friday November 17 2017, @06:30PM (1 child)
It's different because this doesn't prevent blood clotting, it merely inhibits it...i.e., it slows it to a lesser degree. With hemophilia a simple scratch can be life-threatening. With this one it took a significant wound.
That still doesn't mean it's a good trade-off. Not when you're young, certainly. Perhaps the protein could be inhibited when you get older...
And while it slows aging, that doesn't mean it leads to retained youth. The two are separable conditions, though that only happens in unusual conditions. E.g., one thing that signifies aging is slowing of the mitochondria at energy production. I doubt that this affects that.
Javascript is what you use to allow unknown third parties to run software you have no idea about on your computer.
(Score: 2) by JoeMerchant on Friday November 17 2017, @09:55PM
I think their datapoint was date of death vs date of birth - not saying much about quality of life in-between, but good enough to get published.
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