Comparison of the amyloid plaque proteome in Down syndrome, early-onset Alzheimer's disease, and late-onset Alzheimer's disease


Por: Martá-Ariza, M, Leitner, DF, Kanshin, E, Suazo, J, Pedrosa, AG, Thierry, M, Lee, EB, Devinsky, O, Drummond, E, Fortea, J, Lleó, A, Ueberheide, B, Wisniewski, T

Publicada: 18 ene 2025
Resumen:
Down syndrome (DS) is strongly associated with Alzheimer's disease (AD) due to APP overexpression, exhibiting Amyloid-beta (A beta) and Tau pathology similar to early-onset (EOAD) and late-onset AD (LOAD). We evaluated the A beta plaque proteome of DS, EOAD, and LOAD using unbiased localized proteomics on post-mortem paraffin-embedded tissues from four cohorts (n = 20/group): DS (59.8 +/- 4.99 y/o), EOAD (63 +/- 4.07 y/o), LOAD (82.1 +/- 6.37 y/o), and controls (66.4 +/- 13.04). We identified differentially abundant proteins when comparing A beta plaques and neighboring non-plaque tissue (FDR < 5%, fold-change > 1.5) in DS (n = 132), EOAD (n = 192), and LOAD (n = 128), with 43 plaque-associated proteins shared across all groups. Positive correlations were observed between plaque-associated proteins in DS and EOAD (R-2 = .77), DS and LOAD (R-2 = .73), and EOAD and LOAD (R-2 = .67). Top gene ontology biological processes (GOBP) included lysosomal transport (p = 1.29 x 10(-5)) for DS, immune system regulation (p = 4.33 x 10(-5)) for EOAD, and lysosome organization (p = 0.029) for LOAD. Protein networks revealed a plaque-associated protein signature involving APP metabolism, immune response, and lysosomal functions. In DS, EOAD, and LOAD non-plaque vs. control tissue, we identified 263, 269, and 301 differentially abundant proteins, with 65 altered proteins shared across all cohorts. Non-plaque proteins in DS showed modest correlations with EOAD (R-2 = .59) and LOAD (R-2 = .33) compared to the correlation between EOAD and LOAD (R-2 = .79). Top GOBP term for all groups was chromatin remodeling (p < 0.001), with additional terms for DS including extracellular matrix, and protein-DNA complexes and gene expression regulation for EOAD and LOAD. Our study reveals key functional characteristics of the amyloid plaque proteome in DS, compared to EOAD and LOAD, highlighting shared pathways in endo/lysosomal functions and immune responses. The non-plaque proteome revealed distinct alterations in ECM and chromatin structure, underscoring unique differences between DS and AD subtypes. Our findings enhance our understanding of AD pathogenesis and identify potential biomarkers and therapeutic targets.

Filiaciones:
Martá-Ariza, M:
 NYU, Dept Neurol, Grossman Sch Med, New York, NY 10016 USA

 NYU, Ctr Cognit Neurol, Grossman Sch Med, New York, NY 10012 USA

 Univ Autonoma Barcelona, Inst Neurociencies, Barcelona, Spain

Leitner, DF:
 NYU, Dept Neurol, Grossman Sch Med, New York, NY 10016 USA

 NYU, Ctr Cognit Neurol, Grossman Sch Med, New York, NY 10012 USA

 NYU Langone Hlth, Comprehens Epilepsy Ctr, Dept Neurol, New York, NY USA

 Grossman Sch Med, New York, NY USA

Kanshin, E:
 NYU, Grossman Sch Med, Div Adv Res Technol, Prote Lab, New York, NY USA

 NYU, Grossman Sch Med, Dept Biochem & Mol Pharmacol, New York, NY USA

Suazo, J:
 NYU, Dept Neurol, Grossman Sch Med, New York, NY 10016 USA

 NYU, Ctr Cognit Neurol, Grossman Sch Med, New York, NY 10012 USA

Pedrosa, AG:
 NYU, Ctr Neural Sci, New York, NY USA

Thierry, M:
 NYU, Dept Neurol, Grossman Sch Med, New York, NY 10016 USA

 NYU, Ctr Cognit Neurol, Grossman Sch Med, New York, NY 10012 USA

Lee, EB:
 Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA USA

Devinsky, O:
 NYU, Dept Neurol, Grossman Sch Med, New York, NY 10016 USA

 NYU Langone Hlth, Comprehens Epilepsy Ctr, Dept Neurol, New York, NY USA

 Grossman Sch Med, New York, NY USA

Drummond, E:
 NYU, Ctr Cognit Neurol, Grossman Sch Med, New York, NY 10012 USA

 Univ Sydney, Brain & Mind Ctr, Camperdown, NSW, Australia

 Univ Sydney, Sch Med Sci, Camperdown, NSW, Australia

Fortea, J:
 Univ Autonoma Barcelona, Hosp St Creu & St Pau, Inst Recerca IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Fundacio Catalana Sindrome Down, Barcelona Down Med Ctr, Barcelona, Spain

Lleó, A:
 Univ Autonoma Barcelona, Hosp St Creu & St Pau, Inst Recerca IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

Ueberheide, B:
 NYU, Dept Neurol, Grossman Sch Med, New York, NY 10016 USA

 NYU, Grossman Sch Med, Div Adv Res Technol, Prote Lab, New York, NY USA

 NYU, Grossman Sch Med, Dept Biochem & Mol Pharmacol, New York, NY USA

Wisniewski, T:
 NYU, Dept Neurol, Grossman Sch Med, New York, NY 10016 USA

 NYU, Ctr Cognit Neurol, Grossman Sch Med, New York, NY 10012 USA

 NYU, Grossman Sch Med, Dept Pathol, New York, NY 10016 USA

 NYU, Dept Psychiat, Grossman Sch Med, New York, NY 10016 USA
ISSN: 00016322





ACTA NEUROPATHOLOGICA
Editorial
SPRINGER, ONE NEW YORK PLAZA, SUITE 4600, NEW YORK, NY, UNITED STATES, Alemania
Tipo de documento: Article
Volumen: 149 Número: 1
Páginas:
WOS Id: 001400356800001
ID de PubMed: 39825890
imagen Green Submitted, hybrid

MÉTRICAS