For decades Alzheimer’s Disease has been a horrifyingly sad disease, that until recently, could not be prevented. The discomfort a diagnosis of this disease presents in the loss of memory an individual suffers, when once they were so vibrant. It’s always been true that with age memory recall becomes more difficult, but the addition of the amyloid-beta deposits create a lonely and ignorant individual that cannot even remember the love of their life. The deposits are overproduced because of a specific mutation known as E280A for early-onset patients. One lucky individual however, has a second mutation, that saved her from having dementia at the early age. The odd thing is, her brain still showed signs of being affected by Alzheimer’s. The mutation is known as the Christchurch mutation. This mutation is found in other early-onset patients, but none of them had two copies of the mutation. It seems with recent discovery a double copy of the Christchurch mutation can inhibit the dementia effects of Alzheimer’s leaving a patient with full cognitive memory for an extended period of time. There is only one case, but one instance is enough to fund research into discovering the physiological effects of this mutation and if it can be replicated in a new treatment to save the memory of these patients. I found this information relieving because one day I could find myself caring for someone with the disease, and if a treatment is made, I know it will have many positive effects in the advancement of medicine. I truly hope there is a link with the double mutation and this one patient is not simply lucky.
Original Link: https://www.usnews.com/news/health-news/articles/2019-11-04/a-gene-kept-one-woman-from-developing-alzheimers-could-it-help-others
Related Link: https://www.alzforum.org/news/research-news/can-apoe-mutation-halt-alzheimers-disease