Protein (Reelin) in brains that resist aging & Alzheimer’s
https://www.npr.org/sections/shots-health-news/2024/07/29/g-s1-13519/alzheimers-protein-reelin-brain-aging-amyloid-tau-memory
https://directorsblog.nih.gov/tag/reelin-colbos-gene-variant/
https://news.ycombinator.com/item?id=41100737

* extended family: Medellin, Colombia
* everyone got early-onset Alzheimer’s except for one male
* genome: variant related to Reelin (human protein: cap.)
* subsequent studies: Reelin indeed neuroprotective

https://en.wikipedia.org/wiki/Reelin

Single-cell multiregion dissection of Alzheimer’s disease
https://www.nature.com/articles/s41586-024-07606-7

#Alzheimers #neuroprotection #Reelin #aging #ageing

Resilience to autosomal dominant Alzheimer’s disease in a Reelin-COLBOS heterozygous man

The male remained cognitively intact until 67 years of age despite carrying a PSEN1-E280A mutation. He had extremely elevated amyloid plaque burden and limited entorhinal Tau tangle burden.
He was heterozygous for a rare variant in RELN showing stronger ability to reduce human Tau phosphorylation in a knockin mouse.

#Biomedicine #Neuroscience #Brain #Neurology #NeurologicalDiseases #NeurodegenerativeDiseases #Neurodegeneration #Alzheimer #Tau #Reelin #ApoE #Dementia #Neurogenetics

https://www.nature.com/articles/s41591-023-02318-3

Resilience to autosomal dominant Alzheimer’s disease in a Reelin-COLBOS heterozygous man - Nature Medicine

Case report of an individual heterozygous for a rare RELN-COLBOS variant that confers resilience, via a gain-of-function mechanism, to Alzheimer’s disease.

Nature
He defied Alzheimer’s for two decades. Scientists want to know how.

Researchers have identified a rare gene mutation that may have helped protect a Colombian man from developing dementia.

The Washington Post