New Genetic Variant Offers Potential Protection Against Alzheimer’s Disease
New research has identified a genetic variant that may produce extreme resilience and protection against Alzheimer's disease.[0] The study followed an extended family in Colombia, where members develop Alzheimer's in their forties or earlier.[1] Many of the family members carry a genetic variant called the paisa mutation that inevitably leads to early-onset dementia.[2] However, the researchers identified a male family member with a second genetic mutation that protected him from dementia until the age of 67.[3] The mutation was found to be in a gene coding for a protein called reelin, which is associated with brain disorders, including schizophrenia and autism.[4] The mutation appears to limit the production of tau tangles, a hallmark sign of Alzheimer's, and protect the entorhinal cortex, a vital area involved in memory and learning.[5] The findings challenge the theory that Alzheimer's disease is primarily driven by amyloid plaques, which are the targets of several drugs recently approved by the US Food and Drug Administration.[6] The study suggests potential new avenues for treatment, but further research is required before this molecular pathway might be exploited to develop therapies.
0. “Researchers identify rare genetic resilience to Alzheimer’s disease – study” Yahoo Canada Sports, 15 May. 2023, https://ca.sports.yahoo.com/news/researchers-identify-rare-genetic-resilience-150000435.html
1. “Rare genetic mutation delayed Alzheimer's in Colombian man” Interesting Engineering, 16 May. 2023, https://interestingengineering.com/science/rare-genetic-mutation-delayed-alzheimers
2. “How one man's rare Alzheimer's mutation delayed the onset of disease” Nature.com, 15 May. 2023, https://www.nature.com/articles/d41586-023-01610-z
3. “Alzheimer’s disease: Researchers identify gene mutation that can delay onset of symptoms” News9 LIVE, 16 May. 2023, https://www.news9live.com/health/health-conditions/alzheimers-disease-researchers-identify-gene-mutation-that-can-delay-onset-of-symptoms-2142429
4. “Second patient with ‘natural immunity' against Alzheimer's warded off disease for 20 years” Daily Mail, 15 May. 2023, https://www.dailymail.co.uk/health/article-12086313/Second-patient-natural-immunity-against-Alzheimers-warded-disease-20-years.html
5. “Researchers discover second case of person resistant to Alzheimer’s” EL PAÍS USA, 15 May. 2023, https://english.elpais.com/science-tech/2023-05-15/researchers-discover-second-case-of-person-resistant-to-alzheimers.html
6. “US man’s rare Alzheimer’s mutation delayed onset of disease” DTNEXT, 16 May. 2023, https://www.dtnext.in/wellbeing/2023/05/16/us-mans-rare-alzheimers-mutation-delayed-onset-of-disease
