Protective Mutations

The human race is constantly evolving, however most changes are subtle and unnoticeable unless looking back across large chunks of time and making comparisons. Some might consider that we are longer changing and that we have reached an ‘optimum’ point in our evolution and the next logical step is a symbiosis between man and machine, but nature, and humans, might still have some surprises to reveal.

You might be surprised that a man with an unusual mutation has been discovered who exhibits potential resistance to Alzheimer’s disease. A Colombian man who possessed a genetic marker which virtually guaranteed he would develop early onset Alzheimer’s had a brain scan which showed atrophy of the brain as well as amyloid plaques and tae proteins, which together indicated with certainty that he would develop Alzheimer’s in his early 40s.

However, despite the genetic and biological indications, the man did not develop the condition. Only when he reached the age of 67 did he begin to experience the effects.

“The male remained cognitively intact until 67 years of age despite carrying the PSENI-E280A mutation,” explained one of the scientists in the study.

PSEN1-E280A is a genetic mutation seen in the population of the Colombian state of Antioquia. Other studies have shown that every carrier of the mutation shows impairment in verbal fluency by 45 and dementia by 50 and death at an average age of 59.

So why was this man, a carrier of the PSEN1-E280A genetic mutation different?

Scientists found that the man also had a second gene mutation that prevented the disease from affecting him for much longer. This second mutation, called COLBOS by the researchers, blocked the disease from entering the part of the brain responsible for memory and produced a protective protein which prevented the Alzheimer’s own tau proteins from forming into large strands, thereby slowing down the damage to the brain.

What researchers hope to do is to replicate this protective protein to create an effective treatment for Alzheimer’s.

“This really holds the secret to the next generation of therapeutics,” explained cell biologist and study coauthor Joseph Arboleda-Velasquez, who has already founded a biotech company with the purpose of using this research to create pharmaceuticals.

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Futuristic Sci Fi writer.

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