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The gene known as BRCA1, or breast cancer factor 1, is well known for its link to breast cancer. But new research suggests the gene may also be linked to Alzheimer’s disease, the most common form of dementia.
First, Some Background on BRCA1
If you have inherited specific mutations in the BRCA1 gene, you have a higher risk for developing breast and ovarian cancer. Certain mutations in this gene can raise the risk of other types of cancer, too, including fallopian tube and peritoneal cancers and pancreatic cancer. (Mutations in the BRCA2 gene also are linked to higher cancer rates.)
In this new study, researchers examined ways in which BRCA1 might also affect cognition. This theory is based on how normal BRCA1 works to maintain healthy cells in the body, including the brain.
BRCA1 and the Brain
One important function of a healthy BRCA1 gene is a protein that repairs the strands of DNA that make up our genetic code. Scientists recently showed that if someone has lower levels of BRCA1, perhaps due to a mutation, the body might have some trouble repairing those strands, causing the cells powered by that DNA to die.
This effect is similar to what happens in someone with Alzheimer’s disease. The brain develops large amounts of plaques (build-up of a particular protein) and tangles (twisted masses of another type of protein) that seem to prevent nerve cells from being able to communicate with each other. Eventually the nerve cells begin to wither and die, leading to a decline in cognitive abilities and a rise in dementia.
The new research suggests a lower level of the BRCA1 protein could be a contributing factor to that cognitive decline, since the body might have trouble repairing the DNA in those brain cells. (Incidentally, the plaques that form in the brain of someone with Alzheimer’s contain a protein known as beta-amyloid, which in turn may lower a person’s level of BRCA1.)
What This Could Mean for You
Talk to your doctor to see if you have certain risk factors that increase your chances of having the BRCA1 mutations that lead to higher rates of breast and ovarian cancer, and to discuss the pros and cons of being screened. If either of your parents had a mutation in the BRCA1 gene, you are at elevated risk for having the same mutation, since it’s inherited. It tends to be more common in certain population groups, including people of Ashkenazi Jewish heritage, as well as people from Denmark and Iceland. For BRCA1 (and any other genetic screening), patients undergo a blood test that is analyzed for specific gene mutations.
However, it’s important to note there’s still not a definitive single test that can diagnose someone with Alzheimer’s. Most diagnoses of Alzheimer’s include a series of assessments, including medical history and symptoms. There are genes associated with a higher risk of developing Alzheimer’s, but the tests to screen for them are not widely used or recommended by doctors.
While any new insights into Alzheimer’s are promising, there’s still a great deal to learn about how BRCA1 affects brain function. More research is still needed to determine whether the BRCA1 mutations that affect your cancer risk are the same ones that play a role in dementia and brain function.