Genetic Fountain of Youth Discovered
The first genetic mutation that protects
against aging has been found in humans, with scientists using this discovery to
develop a longevity drug that attempts to protect people from aging-related
diseases. While scientists have always known that certain communities live
longer than others, the genetic markers for increased longevity have always
been a mystery. Researchers found what they were looking for in an extended
family of Old Order Amish living in the vicinity of Berne, Indiana, where
people not only live longer but also have significantly less cases of diabetes
and better overall health outcomes.
Published in the journal 'Science
Advances', the study found that the immediate family and relatives of the Amish
kindred with the mutation had a much better life expectancy than those without.
The individuals involved had very low levels of
PAI-1 (plasminogen activator inhibitor), a protein that comprises part
of a "molecular fingerprint" related to aging or senescence of cells.
PAI-1 plays an important role in the regulation of the human blood clotting
system and is significant in the formation of many diseases. When people are
missing PAI-1, they have increased breakdown of clots and abnormal bleeding
that may be associated with heavy menstrual bleeding, bleeding with pregnancy
and ovulation, dental work, injury and trauma.
Amish people with this genetic mutation
live to 85 years on average, which is significantly longer than the predicted
lifespan of 71 for Amish people in general. People with the mutation live more
than 10 percent longer and also have 10 percent longer telomeres - the
protective caps at the end of chromosomes that are a biological marker of
aging. This has a number of important implications, with this single mutation
possibly linked to a lower chance of developing diabetes, improved
cardiovascular function, retained flexibility in blood vessels, and even a
lower chance of developing baldness.
According to Dr. Douglas Vaughan, lead
author of the paper and chairman of medicine at Northwestern University
Feinberg School of Medicine and Northwestern Medicine, "The findings
astonished us because of the consistency of the anti-aging benefits across
multiple body systems... For the first time we are seeing a molecular marker of
aging (telomere length), a metabolic marker of aging (fasting insulin levels)
and a cardiovascular marker of aging (blood pressure and blood vessel
stiffness) all tracking in the same direction in that these individuals were
generally protected from age-related changes... That played out in them 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.'"
Scientists from Northwestern and Tohoku
University in Japan are attempting to recreate the effects of this mutation to
see if it's possible to protect a wider group of people. An oral longevity
drug, currently known as TM5614, has been designed to inhibit the action of
PAI-1 and protect against aging-related diseases. The drug has already been tested
in a phase 1 trial in Japan and is currently in the phase 2 period.
Northwestern will also apply for FDA approval to start an early phase trial in
the United States, with trials possibly starting within the next six months.
While we are still a long way from a readily available anti-aging drug, this
important discovery has the potential to extend lifespan and delay the onset of
numerous diseases in coming decades.
Image source: Sergey Nivens/Shutterstock