2023-05-17 10:28:08
Autosomal dominant Alzheimer’s disease or ADAD is a particularly early form of Alzheimer’s. Affected individuals show signs of dementia as early as their mid-40s. This early form of Alzheimer’s is caused by an inherited genetic mutation. As she progresses rapidly, very few of the patients survived beyond 60 years.
Recently, scientists discovered a genetic mutation that slows down the onset of this disease. This gene was detected in a man belonging to a family in which this particularly devastating form of Alzheimer’s is hereditary. This discovery gave a new new hope to the scientific world.
It leads to new avenues for seek new treatments to prevent or slow the progression of this disease. To date, it is the second genetic variant reported to protect once morest MAAD.
A man with Alzheimer’s did not develop dementia
Dr. Joseph Arboleda-Velasquez, a biomedical researcher at Harvard University, reported the results of their experiments in Live Science. She explained that the patient at the heart of this study comes from a Colombian family they had been following for a long time. The researchers noticed that all of its members are carriers of a genetic mutation responsible for the disease.
However, the man in question, although carrying the family mutation, did not succumb to dementia praecox. He remained healthy until his late 60s. The patient only developed a mild form of Alzheimer around the age of 72. And he eventually died at age 73 of causes unrelated to dementia.
RELN genetic mutation prevents amyloid plaque formation
Knowing the genetic profile of the family, Arboleda-Velasquez and his colleagues were fascinated by the medical journey of this man. Dr. Arboleda-Velasquez said it is truly remarkable that this person managed to live so long. To find out more, the researchers sequenced his genes in order to compile a list of genetic variants that may have protected it.
This is how they discovered the mutation of one of the RELN genes encoding a protein involved in the disease. Researchers have found that this variant that humans carry reduced the formation of amyloid plaques which are responsible for dementia attacks in patients. Further study of this mutated gene would pave the way for the next generation of Alzheimer’s therapies.
SOURCE : LIVESCIENCE
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