Study discovers two rare genetic variants associated with Alzheimer’s

A group of Boston researchers has discovered two rare genetic variants associated with Alzheimer’s disease.

According to the study, researchers at Boston University School of Medicine were able to observe the variants, found in the NOTCH3 and TREM2 gene, only in patients with the neurodegenerative disease.

Mutations of the NOTCH3 variant, although has never been linked to Alzheimer’s before, could cause a rare form of dementia known as CADASIL. In the TREM2 gene, other mutations have been linked to Alzheimer’s. Individuals with a particular mutation, called Q33X, are known to exhibit another rare disorder called Nasu-Hakola disease, causing symptoms of dementia in midlife.

In the study, researchers analyzed DNA sequence data collected from the Alzheimer Disease Sequencing Project of over 5,600 participants with Alzheimer’s and 4,600 cognitively healthy participants used as the control group.

“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,” said Lindsay Farrer, Ph.D., author of the study.

The findings also demonstrated that participants with Alzheimer’s had a drastically greater burden of mutations in genes synonymous with the neurodegenerative disease, compared to the control group.

“Discovery of associations of Alzheimer’s risk with rare genetic variants can lead to new insights about biological pathways involved in AD and strategies for developing novel treatments and biomarkers,” Farrer concluded.

The study was published online in JAMA Network Open.