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Showing posts with the label genetics

Uncovering Resilience to Alzheimer's Disease

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A recent publication highlights the discovery of the second case demonstrating exceptional resilience to autosomal dominant Alzheimer's disease (ADAD). This male patient, carrying a PSEN1-E280A mutation, remained cognitively intact until the age of 67, despite the presence of highly elevated amyloid plaque burden. Interestingly, the patient did not possess the protective APOE3 Christchurch variant but instead had a rare variant in the RELN gene (H3447R), termed COLBOS. This gain-of-function variant showed enhanced ability to activate its protein target Dab1, leading to reduced human Tau phosphorylation. These findings suggest a potential role for RELN signaling in resilience to dementia, highlighting the importance of genetic variants in ADAD protection.  The apolipoprotein E (APOE) gene, specifically the APOE ε4 allele, is the most well-established genetic risk factor for late-onset Alzheimer's disease. Inheriting one or two copies of the APOE ε4 allele increases the risk of d...

Genetic Determinants of Aging and Longevity

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Aging is a natural process that all living things have to go through. It is characterized by the gradual loss of function and stability at the molecular, cellular, tissue, and organ levels. This process is often accompanied by the development of age-related diseases, such as cardiovascular disease, musculoskeletal issues, neurodegenerative diseases, and cancer. During the COVID-19 pandemic, the relationship between aging and the immune system became particularly important, as older individuals have a higher risk of developing serious complications and death from the virus compared to younger people. However, there have also been reports of 100-year-old individuals who have successfully survived COVID-19 (some mentioned in our recent paper ). The rate of aging and life expectancy can be influenced by various factors, including genetics, which is believed to account for up to 30% of the variation in human lifespan. It has been found that siblings of people who have lived beyond the age o...