Second person in the world discovered to have gene that can resist Alzheimer's disease

The man was discovered in Colombia by a team of international researchers. He made a living repairing machines.

Initially, the research team discovered that the man carried a mutation in the Paia gene, which increases the risk of Alzheimer's disease, according to the Daily Mail (UK).

Alzheimer's disease occurs when protein plaques build up in the brain, disrupting function and destroying nerve cells.

Normally, a man should get Alzheimer's when he turns 40 and will die around the age of 60. Genetic factors are the most common cause of early onset Alzheimer's and shortened life expectancy.

However, when he was 67, neurologists examined his health and discovered something strange. Instead of dying of Alzheimer's, the man's cognitive and intellectual abilities were normal. Neither the patient himself nor his family noticed any abnormalities in his memory.

Researchers later discovered that the reason for this strange phenomenon was that he carried a rare gene variant that helped him almost avoid Alzheimer's. This gene is called reelin, which is likened to "natural immunity" to the disease.

In other words, the man carried both the gene that causes early-onset Alzheimer’s and the gene that makes him immune to the disease. This strange case was published by researchers in the scientific journal Nature Medicine.

Thanks to this gene, the man lived to be 74 years old with only moderate memory loss. When researchers examined his brain more closely, they found that it had the hallmarks of Alzheimer’s disease, including the formation of amyloid plaques and abnormal accumulation of the protein tau in the brain. However, the tau protein accumulated very little in the entorhinal cortex, an area that plays an important role in memory.

This surprised researchers. They hope that this new discovery will help open up hope that it is possible to delay or even prevent the progression of Alzheimer's disease.

The first person to be found to have a gene variant that protects against Alzheimer’s was Aliria Rosa Piedrahita de Villegas of Colombia. Researchers discovered her in 2019. The gene was named Christchurch. She died in November 2020 from cancer, according to the Daily Mail.

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