Amish People: Old age because of genetic mutations?

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November 20, 2017 – Thanks to old aged Amish people, the first ever anti-ageing genetic mutation(s) have been discovered. According to a study published in the Journal Science Advances revealed a research team from a Northwestern University Feinberg School of Medicine, Chicago, IL, USA that seemingly an Indiana Amish

community holds the (genetic) key to living  about 10% longer. The researchers found that members of the community carry a copy of a genetic mutation, SERPINE1 that enables them to live longer, and have, in addition, a lower incidence of diabetes and cardiovascular disease.

The discovery originated in a research interest in the Old Order Amish community living in relative geographic and genetic isolation in the vicinity of Berne, Indiana, because they had a high incidence of a rare bleeding disorder, caused by a mutation on both copies of the SERPINE1 gene (i.e. the carriers were homozygous for this particular SERPINE1 mutation). This mutation (i.e., a “null” or “loss of function” mutation) actually prevents the regulation of a protein called PAI-1, which dissolves blood clots.

However, the researchers quicly realised that those individuals with a mutation on only one of these copies (i.e., being heterozygous for that particular SERPINE1 mutation) didn’t have the bleeding disorder. Similar to heterozygous carriers of the sickle-cell anemia gene (HgbS gene) who have protection against malaria, people with this mutation appeared to experience advantages too. The answer was that they had a longer average lifespan and 10% longer telomeres, which is the small protective cap of repeated nucleotides at the ends of chromosomes. The caps in particular, tend to shorten and unravel over an organisms lifetime, and have been linked with the biology of aging.

Furthermore, those with a single copy of the mutation had a lower incidence of diabetes, lower insulin levels after fasting. slightly lower blood pressure, and possibly more flexible blood vessels. Of the 177 people in the community, 43 people had a single mutated SERPINE1 copy.

Thus, for the first time in this study 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) in combination point in the same direction in that these individuals were generally protected from age-related changes.

Coming from Switzerland, for the author of this post it might be particularly interesting to note that the origin of the studied Old Order Amish population is actually originating from the Bernese region in Switzerland, from where this population has emigrated to the United States some time in the middle of the 19th century and who even today are referred to as the Swiss Amish people. It would be of outmost interest to learn if on a geogenetic scale, heterozygous carriers of the genetic mutation described here are still prevalent in the original Bernese region of Switzerland and if these people, under geographically and genetically most likely less isolated conditions also profit from longevity and protection from other age-related changes described in the full study report.
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About the Author
thassodotcom Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.

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