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Publication : Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.

First Author	Lopera F	Year	2023
Journal	Nat Med	Volume	29
Issue	5	Pages	1243-1252
PubMed ID	37188781	Mgi Jnum	J:341134
Mgi Id	MGI:7529324	Doi	10.1038/s41591-023-02318-3
Citation	Lopera F, et al. (2023) Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man. Nat Med 29(5):1243-1252

abstractText

We characterized the world's second case with ascertained extreme resilience to autosomal dominant Alzheimer's disease (ADAD). Side-by-side comparisons of this male case and the previously reported female case with ADAD homozygote for the APOE3 Christchurch (APOECh) variant allowed us to discern common features. The male remained cognitively intact until 67 years of age despite carrying a PSEN1-E280A mutation. Like the APOECh carrier, he had extremely elevated amyloid plaque burden and limited entorhinal Tau tangle burden. He did not carry the APOECh variant but was heterozygous for a rare variant in RELN (H3447R, termed COLBOS after the Colombia-Boston biomarker research study), a ligand that like apolipoprotein E binds to the VLDLr and APOEr2 receptors. RELN-COLBOS is a gain-of-function variant showing stronger ability to activate its canonical protein target Dab1 and reduce human Tau phosphorylation in a knockin mouse. A genetic variant in a case protected from ADAD suggests a role for RELN signaling in resilience to dementia.

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