A rare genetic mutation discovered in the Amish community increases length of life by at least 10 years, and protects against many health issues. Hope is rising for development of new treatments in preventing age-related disorders, including dementia.
Within the town of Berne, Indiana, 177 members of the Old Order Amish were studied by scientists. Researchers discovered that 43 of these people had inherited one mutant version of the gene, SERPINE1.
Those with the mutation lived to an average of 85 years of age, whereas, those in the Amish community without the gene only lived to an average of 75 years of age.
It was also discovered that the Amish who held a mutated version of SERPINE1 were unlikely to get diabetes, had a higher metabolism, and had 30% lower fasting insulin levels.
SERPINE1 instructs the body to create a specific protein, PAI-1 (plasminogen activator inhibitor) which slows a process that destroys the formation of clots within blood vessels.
However, this protein is also known to help with the process of senescence, whereby cells lose power in dividing and growing; they become within a state of suspended animation, and begin to build up in tissues.
In animals, when levels of PAI-1 are reduced, they are protected against the process of ageing, and diseases associated with ageing. This same effect has not been visible to see occur within humans, however, until now; the Amish community are the only known people to carry the mutation that naturally reduces PAI-1 levels within the blood.
Those with the single mutation were seen to have 50% less PAI-1 in their blood, however, the Amish who had two mutated versions of SERPINE1 were seen to have no traces of PAI-1 within their blood, and this led to a bleeding disorder. Scientists aren’t sure on the effects on life-span with having a double mutation of the gene, as the oldest known person to have the double mutation is 30 years old.
It is seen that having a considerate amount of PAI-1 is good; having neither too much, or too little, of the gene leads to an increased life-span.
The researchers also investigated the telomeres of the Amish, which are caps at the end of DNA strands protecting chromosomes, which become shorter and shorter with age. Without telomeres DNA would become damaged, and cells would be unable to function. Scientists saw that carriers of the mutated gene had 10% longer telomeres than those without the gene, suggesting they had aged slower.
Currently, trials are taking place in developing drugs which could slightly decrease PAI-1 blood levels, due to this research on the Amish mutation. If the trials are a success, the drug could have the potential to delay the onset of age-related diseases, such as dementia, diabetes and cancer, and even help in treating those with conditions which cause premature ageing. The development in this drug would be life-changing.
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