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A group of Boston researchers discovered two rare genetic variants badociated with Alzheimer's disease.
According to the study, researchers at Boston University's Faculty of Medicine were able to observe the variants present in the NOTCH3 and TREM2 genes only in patients with neurodegenerative disease.
Mutations in the NOTCH3 variant, although they have never been linked to Alzheimer's, could cause a rare form of dementia called CADASIL. In the TREM2 gene, other mutations have been linked to Alzheimer's disease. People with a particular mutation, called Q33X, are known to have another rare disorder called Nasu-Hakola Disease, causing dementia symptoms in their forties.
As part of the study, researchers badyzed data from DNA sequences collected as part of the Alzheimer's Disease Sequencing Project from over 5,600 participants with Alzheimer's disease and 4,600 participants in good mental health used as a control group.
"Our results indicate that different mutations in the same gene or a different number of copies of a given mutation can lead to very distinct forms of dementia," said Lindsay Farrer, Ph.D., author of the report. ;study.
The results also showed that participants with Alzheimer's disease had a burden of mutations in genes that are synonymous with neurodegenerative disease significantly greater than that of the control group.
"The discovery of badociations of the risk of Alzheimer's disease with rare genetic variants can lead to new insights into the biological pathways involved in AD and strategies for developing new treatments and biomarkers," he said. concluded Farrer.
The study was published online in JAMA Network open now.
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