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Research Grants 2016

To view an abstract, select an author from the vertical list on the left.

2016 Grants - Shanbhag

The Role of BRCA1 in Alzheimer's Pathogenesis

Niraj Madhav Shanbhag, M.D., Ph.D.
University of California, San Francisco
San Francisco, California

2016 Alzheimer’s Association Research Fellowship (AARF)

Does a gene involved in DNA repair and cancer play a role in Alzheimer’s disease?

A major focus of Alzheimer’s research is determining what genetic factors may increase the risk for disease. Recent evidence suggests that accumulation of damage to an individual’s DNA (genetic code) may increase the risk of Alzheimer’s and other neurodegenerative diseases.

Niraj Shanbhag, M.D., Ph.D., and colleagues recently found that Alzheimer’s-like mice develop a particularly severe form of DNA damage called “double-strand breaks” (DSBs) in their brain cells. The mice also show decreased levels of a protein known as breast cancer type 1 (BRCA1) in the brain. This protein can repair double strand breaks in DNA, and lack of this protein (due to certain genetic variations) is known to increase the risk for cancer. Studies by Dr. Shanbhag’s team have also found that BRCA1 levels are low in the brain tissue of people who had Alzheimer’s disease. More research is needed to better understand the precise role of BRCA1 in the brain and how it may affect the risk of developing Alzheimer’s disease.

Research Plan
For their current work, Dr. Shanbhag and colleagues will conduct a series of studies to explore the causes and consequences of BRCA1 alterations in Alzheimer’s disease. They will expose nerve cells growing in laboratory dishes to beta-amyloid and determine if this promotes the loss of BRCA1 and an increase in DSBs in the DNA. Beta-amyloid is a protein fragment that forms “plaques” in the brain during Alzheimer’s disease. They will also work to identify the molecular mechanisms that link beta-amyloid to a loss of BRCA1 in the brain. Using Alzheimer’s-like mice, the investigators will explore if low brain levels of BRCA1 lead to abnormal activation of structural elements in DNA called “transposons” that may alter the function of nerve cells.

Dr. Shanbhag’s study could reveal a novel genetic mechanism that may increase Alzheimer’s risk. Preventing DNA damage or promoting its repair could offer new avenues for the development of therapies that could slow or halt Alzheimer’s disease.

Alzheimer's Association International Conference | July 16-20, 2017, London, England

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