Two extremely rare genetic variants are linked to Alzheimer’s disease, according to a new study co-authored by Boston University School of Public Health (BUSPH) researchers.
The study, published online in JAMA Network Open, found the two mutations, one located in the NOTCH3 gene and the other in the TREM2 gene, only in people with Alzheimer’s disease. This is the first study to link these gene variants with the disease, although other variants in both genes have previously been linked to rare forms of dementia.
“Our findings indicate that different mutations in the same gene or different number of copies of a particular mutation may lead to very distinct forms of dementia,” says corresponding author Dr. Lindsay Farrer, professor of biostatistics at BUSPH. “Discovery of associations of Alzheimer’s risk with rare genetic variants can lead to new insights about biological pathways involved in Alzheimer’s disease and strategies for developing novel treatments and biomarkers.”
Previous research has found that other mutations in the NOTCH3 gene cause a very rare form of dementia called CADASIL, (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) which begins with severe headaches and strokes in young adulthood followed by dementia by midlife — decades before the typical age of late-onset Alzheimer’s disease.
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