2023-05-16 10:13:47
Researchers have discovered the existence of a genetic variation that might protect once morest Alzheimer’s disease. Explanations.
In France, approximately 900,000 people suffer from Alzheimer’s disease. The Sun reports the case of a man who is the carrier of a protective gene once morest this neurodegenerative disease. As the British site tells, this Colombian was carrying a hereditary mutation which often causes the onset of dementia in his forties. Today, numerous studies have confirmed that this disease is characterized by the alteration of the tau protein.
As part of a recent study, American researchers discovered the existence of a genetic variation capable of protecting once morest the onset of Alzheimer’s disease.
A genetic variant
“The genetic variant can produce extreme resilience and protection once morest Alzheimer’s symptoms. These are the types of information that we cannot get without the patients. They show us what matters when it comes to protection and challenge many of the field’s assumptions regarding Alzheimer’s disease and its progression.“, notes Dr. Joseph Arboleda-Velasquez, of Mass General Brigham in Boston in remarks reported by the Sun.
Inserm reports that the risk of developing Alzheimer’s disease is on average multiplied by 1.5 if a first-degree relative is affected, and by 2 if at least two are affected. “Studies examining the entire genome (known as genome-wide) have highlighted certain genes associated with a risk of the onset of the disease“, details the scientific research organization.
“Extraordinary Cases”
These findings were published in the scientific journal Nature Medicine, the researchers analyzed the health records of 1,200 people carrying the Paia mutation. “We identified a male carrier of the PSEN1-E280A mutation who remained cognitively intact until the age of 67. (…) A first cognitive assessment at age 67 revealed limited verbal learning skills and language difficulties in the context of functional autonomy“, notes the study. At 72 years old, his speech had deteriorated further, progressing to mild dementia. A year later, he needed help with basic activities of daily living and met the criteria for dementia. He died at the age of 74 from aspiration pneumonia, a longevity that might be linked to a variation in the Reelin gene.
“Extraordinary cases like this illustrate how individuals can help open new avenues of discovery. The insights we gain from this second case can guide us as to where in the brain we should look to delay and arrest disease progression.“, underlines Dr. Yakeel Quiroz, of Massachusetts General Hospital, quoted by the Sun.
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