Tuesday, November 19, 2019
Rare Genetic Mutation May Give Clues to Prevent Alzheimer's
https://www.cbsnews.com/news/alzheimers-disease-rare-genetic-mutation-might-hold-clues-to-prevent-treat-dementia/ Alzheimer’s Disease is the most common type of dementia that affects about 1 in 10 adults over the age of 65. Since it is one of the more common diseases, many patients and families of patients have been deeply affected by it because of its symptoms. A woman in Columbia was lucky enough to avoid the symptoms of early-onset Alzheimer's for a few decades because of a gene that had that protected her from having dementia.
This woman was predisposed to develop Alzheimer's in her 40s because she had the E280A mutation, which is known to increase the chances for Alzheimer's at a younger age. Surprisingly enough, she had clear signs of Alzheimer’s in her brain but she did not develop dementia until she was in her 70’s. Dr. Joseph Arboleda-Velasquez, an assistant professor of ophthalmology at Harvard Medical School, and his colleagues ran a genetic analysis on this woman to find out why she hadn’t developed dementia until decades after she was predicted to. They found that along with the E280A mutation that is supposed to cause early-onset Alzheimer’s, the woman also carried two copies of the so-called "Christchurch" mutation. The Christchurch mutation is a rare mutation that was also found in other E280A patients but these patients still develop dementia at an earlier age. Having two copies of this mutation is what allowed the woman to have a clear memory for a few decades before developing mild dementia. Though the team has found the mutations that “protected” this woman from dementia, more research is being done to confirm the Christchurch mutation’s impact.
Although it is not fully confirmed that this mutation can prevent dementia in Alzheimer’s, I believe this rare mutation is a very important discovery. As the article stated, it could lead to developing drugs that could prevent Alzheimer’s from developing dementia instead of solely finding ways to prevent Alzheimer’s from developing.