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Scientists have discovered that two rare variants of the gene are responsible for Alzheimer's disease: they studied the DNA sequences of 5,617 people with Alzheimer's disease and 4,594 people with no neurological disorders degenerative.
During the study, scientists from two patients with impaired cognitive perception discovered a gene mutation (notch 3), already linked to a rare disease called cerebrovascular anemia with subclinical infarction and cerebral hemangiomas (CADASIL). Sufferers have severe headaches and strokes early in life, before developing vascular dementia between 40 and 55 years of age. "This is what happens before Alzheimer's disease," said co-author, Dr. Lindsay Farrier, MD, and head of the Department of Biomedical Genetics of the University's Faculty of Medicine. of Boston.
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During the study, four of the participants presented with a mutation (TREM2) or (Q33X), which could cause Nasu-Hakola disease or polycystic liposuction with white brain disease. This disease causes early dementia and bone abscesses that often result in fractures, especially to the hands and feet.
"This dementia occurs when a person has a multiplier for that particular mutation, whereas the Alzheimer's cases we identified contained only one," Farrer said.
"Different mutations in the same gene or a variable amount of mutation may be associated with different dementia," the authors write in the journal Gamma Network. "These differences suggest that slight variations in the structure or amount of protein may be associated with different clinical outcomes."
However, Ms. Farrer said she hoped the study would lead to more tests to predict the risk of developing Alzheimer's disease with the development of treatments for the incurable disease, which will help 50 million people worldwide develop dementia, a neurodegenerative disease associated with the most common Alzheimer's disease. Until now, there is no treatment for Alzheimer's disease and scientists do not know exactly why.
Dr. Keith Fargo, director of Alzheimer's programs at the Alzheimer Society, said, "The modified Gene Notch 3 tankers have nothing to do but the mutation in each of them seems to come from a common ancestor." revealed that this genetic inheritance would probably be anchored in the Ashkenazi Jews, that is to say the Jews of Eastern Europe. "
Fargo argued that the study was limited because the sample size was relatively small, which meant that statistical significance could not be demonstrated. Another disadvantage is that participants may be genetically more susceptible than researchers.
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