An extremely rare gene capable of combating Alzheimer's disease was finally discovered in the second patient. According to a study published on the 15th in Nature Medicine, a newly identified rare genetic variation in the RELN gene (encoding the signal protein relin) in a man is associated with the recovery ability of autosomal dominant Alzheimer's disease (ADAD) over 20 years. This is the second report of such resilience, highlighting a previously unknown molecular pathway that may increase the resilience of all forms of Alzheimer's disease. ADAD is a rare genetic form of Alzheimer's disease, most commonly due to a specific mutation in the PSEN1 gene (encoding transmembrane transporter Presenilin 1). Its characteristic is early onset cognitive impairment, such as memory loss at a younger age (usually between 40-50 years old). In a previously reported case, an ADAD woman also had a rare mutation that allowed her to maintain cognitive impairment for nearly 30 years after the expected onset age, despite her brain showing signs of Alzheimer's disease. This time, a team including scientists from the Hamburg Eppendorf University Medical Center in Germany analyzed the clinical and genetic data of 1200 individuals from Colombia who carried the PSEN1 variant and were prone to ADAD. They found that a man, despite carrying early onset mutations, remained cognitively intact until the age of 67. The team compared this man with the first female case previously reported, both of whom exhibited extensive and extensive amyloid pathology in their brains, which is an important pathological feature of Alzheimer's disease. However, the accumulation of tau protein (a microtubule stabilizing protein in the brain) in the olfactory cortex is limited. After gene sequencing, the team discovered a different type of mutation in the second patient: a rare new RELN variant (H3447R, known as COLBOS). This mutation leads to a binding molecule that can more effectively limit tau protein accumulation, but further research is needed to explore this. Scientists have concluded that the new findings may suggest a common mechanism for tolerating Alzheimer's disease, or may empower individuals at increased risk of Alzheimer's disease to restore their cognitive impairment. (Outlook New Era Network)
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Source：http://digitalpaper.stdaily.com/http_www.kjrb.com/kjrb/html/2023-05/16/content_553252.htm?div=-1
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