Document Type

Journal Article

Publication Title

Nature Medicine

Volume

29

Issue

8

First Page

1979

Last Page

1988

PubMed ID

37550416

Publisher

Nature

School

School of Medical and Health Sciences

RAS ID

61866

Funders

https://doi.org/10.1038/s41591-023-02476-4

Comments

Johnson, E. C. B., Bian, S., Haque, R. U., Carter, E. K., Watson, C. M., Gordon, B. A., . . . Levey, A. I. (2023). Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer’s disease. Nature Medicine, 29, 1979-1988. https://doi.org/10.1038/s41591-023-02476-4

Abstract

Alzheimer’s disease (AD) pathology develops many years before the onset of cognitive symptoms. Two pathological processes—aggregation of the amyloid- (A ) peptide into plaques and the microtubule protein tau into neurofibrillary tangles (NFTs)—are hallmarks of the disease. However, other pathological brain processes are thought to be key disease mediators of A plaque and NFT pathology. How these additional pathologies evolve over the course of the disease is currently unknown. Here we show that proteomic measurements in autosomal dominant AD cerebrospinal fluid (CSF) linked to brain protein coexpression can be used to characterize the evolution of AD pathology over a timescale spanning six decades. SMOC1 and SPON1 proteins associated with A plaques were elevated in AD CSF nearly 30 years before the onset of symptoms, followed by changes in synaptic proteins, metabolic proteins, axonal proteins, inflammatory proteins and finally decreases in neurosecretory proteins. The proteome discriminated mutation carriers from noncarriers before symptom onset as well or better than A and tau measures. Our results highlight the multifaceted landscape of AD pathophysiology and its temporal evolution. Such knowledge will be critical for developing precision therapeutic interventions and biomarkers for AD beyond those associated with A and tau.

DOI

10.1038/s41591-023-02476-4

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