Researchers investigating the mysteries of Alzheimer’s disease have made a ground-breaking discovery that may be able to protect people at risk from this severe type of dementia. Despite a familial tendency toward early-onset memory loss, the study’s authors describe a guy who challenged his genetic makeup and retained normal cognitive function far into his elderly years.
This individual initially seemed predestined for the same fate, coming from a big family in Antioquia, Colombia, known for inheriting a defective gene called presenilin-1 (PSEN1), which essentially assures the development of Alzheimer’s at an early age. He miraculously avoided memory fading for decades longer than expected. Intending to develop measures to shield people from developing Alzheimer’s disease, curious researchers decided to look into the protective mechanism at work.
The guy finally did get moderate dementia at the age of 72, and his memory loss increased along with an infection that ultimately caused pneumonia and took his life at the age of 74. His brain was discovered to be heavily loaded with beta-amyloid and tau, two substances that are normally detected in Alzheimer’s patients after death.
But there was also a gleam of hope amidst the typical symptoms of the disease. An unusual mutation in a gene-generating reelin, a protein known to improve communication between nerve cells, was discovered through genetic research. The entorhinal cortex, the area of the brain most susceptible to Alzheimer’s, was shielded by the change in this gene, which seems to improve reelin’s effectiveness.
Also Read: Weight problems Treatment Plus Surgical treatment Add As a lot as Extra Weight Loss: Gape
Dr. Joseph Arboleda-Velasquez, the study’s principal author and an associate professor of ophthalmology at Harvard University, said, “In this situation, it was quite evident that this reelin variation helps reelin operate better. That provides us with a ton of new information. It becomes quite clear that just increasing the amount of reelin in the brain can benefit patients.
The entorhinal cortex often deteriorates with age and the development of Alzheimer’s disease while being essential for memory and smell. Surprisingly, this particular case argues that augmented reelin’s protective effects need not shield the whole brain, offering a possible advance in adapted treatments.
Researchers who are investigating this big family have come with similar rejections of genetic destiny before. They discovered the instance of a lady who, although expected to have early-onset Alzheimer’s, miraculously kept her cognitive abilities until she was in her 70s in previous research. She possessed a Christchurch mutation in her APOE3 gene, which decreased the function of the APOE3 protein—a signalling mechanism linked to an increased risk of Alzheimer’s disease. It’s interesting to note that APOE and reelin receptors are the same.
The protective mechanism might not be always successful, though. The unusual gene alteration was also present in the man’s sister, although it only partially protected her against cognitive impairment. Her relatives said that she began to decline at the age of 58. This disparity may be caused by the gene’s decreased expression in ageing women, which results in less reelin protein being produced. “They can have the variant, but they don’t express it as much as men,” Arboleda-Velasquez said. The Harvard team is now working on creating treatments that take advantage of this new information in light of these amazing discoveries.
