It has been determined that a rare genetic variant delays the onset of Alzheimer’s disease. The discovery, which created excitement in the scientific world, was first revealed in 2019. Scientists discovered a patient whose genes delayed the symptoms of Alzheimer’s disease; and in the studies conducted, it was determined that the person in question had a special type of “APOE gene” known as the “Christchurch Variant”. Aliria Rosa Piedrahita de Villegas, a woman who was diagnosed with “dementia” at the age of 70, passed away at the age of 77. Last week, an interesting scientific article shed light on the curiosities. In the study they wrote for “The New England Journal of Medicine”, researchers announced that they discovered a copy of the “Christchurch Gene” in 27 members of a Colombian family who were at risk of developing Alzheimer’s. According to the research results reported in the Washington Post, it was understood that these people experienced a delay of approximately five years in cognitive decline.
LIGHT OF HOPE FOR MEDICINE
This could be used to develop a drug that mimics the gene in question, according to Joseph F. Arboleda-Velasquez, an associate scientist at Mass Eye and Ear in Boston and co-author of the study, who cautioned against the study, saying, “In medicine, we are taught not to extrapolate too much from a single patient.”
COMMON GENE FOUND
According to the study published in the Washington Post, Francisco Lopera, a neurologist at the University of Antioquia in Medellin, Colombia, had begun treating patients with an inherited form of Alzheimer’s disease. According to Lopera, signs of memory loss begin around age 45, and full-blown dementia occurs before age 50. Patients usually die in their 60s. Scientists have linked the disease to a mutation in the Presenilin 1 gene, which affects about 1,200 people in an extended family line.
SINGLE COPIES ARE LOOKING FOR
According to the Washington Post, scientists need to work for a long time to turn the unique case of delayed symptoms into broader medical knowledge. The news in question notes: “Everyone has two copies of the APOE gene. Having two copies of the Christchurch variant, like Piedrahita de Villegas, is “extremely rare,” said Yakeel T. Quiroz, MD, a clinical neuropsychologist at Massachusetts General Hospital. So researchers started looking for people who had only one copy.”
EXPERIMENT ON MICE
On the other hand, scientists’ fight against Alzheimer’s continues with many different experiments. One of these experiments is being conducted on the time cells in the area of the brain called the medial entorhinal cortex (MEC). In the study conducted on mice, it was determined that the cells in question enable the learning of behaviors that require timing, and that the data obtained may have implications for diseases that affect time perception, such as Alzheimer’s. The research was published in the peer-reviewed journal Nature Neuroscience.
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