Rare Genetic Mutation In Blood Could Help Humans Live Longer

Twenty years ago, a young girl living in an Indiana Amish community lost so much blood during a routine scalp surgery that she almost died. Now scientists studying her DNA have discovered that she had a rare genetic mutation that could extend human life.

According to Science Mag, the Amish girl had two copies of a mutant gene and was missing a gene that controlled blood clotting, which explains her near-death experience during surgery. But they also found that people with inactivate gene copies live longer and have a genetic protection against diabetes.

The findings indicate that the gene plays an important role in aging, and researchers are working on a therapy that could target proteins in the gene. Also, a Japanese research team is using it in a study on people who have a high risk of developing diabetic kidney disease. Furthermore, scientists want to implement clinical trials in the United States on people who have conditions like obesity.

The team went back to the Indiana Amish community to find the original patient and include her in the study.

“I’ve been thinking about you for a long time,” lead author of the study, cardiologist Douglas Vaughan said to her. He added, “she looked at me like I was some sort of weirdo.” Despite this awkward first encounter, she agreed to be part of the research along with over 175 members of her community.

Scientists have already found that the protein encoded by the gene, PAI-1, goes up in people with age-related illnesses like diabetes and cardiovascular disease. Also, in the lab, mice with elevated levels of the protein started aging much earlier.

When they studied members of the Amish community, the team discovered that the average lifespan for someone with one copy of the mutated gene was 85 years, which was 10 years longer than other members of the community. That’s one of the reasons why they concluded that the mutation offered a “protective effect” against aging.

In the full text of their results, published in Science Advances, they explain that individuals with one mutated gene had longer telomeres which are the caps at the end of genes that protect the chromosomes. These tend to get worn away as we age and longer ones could explain the longevity associated with the mutated gene. Also, the genetic malfunction also showed signs that it was connected lower insulin levels, which is an indication of good metabolic health.

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