PXD064699

PXD064699 is an original dataset announced via ProteomeXchange.

Title	Down Syndrome and Alzheimer Disease CSF Proteome
Description	Almost all individuals with Down Syndrome (DS) develop Alzheimer’s disease (AD) by mid to late life. However, the degree to which AD in DS shares pathological changes with sporadic late-onset AD (LOAD) and autosomal dominant AD (ADAD) beyond core AD biomarkers such as amyloid-β (Aβ) and tau is unknown. Here, we used proteomics of cerebrospinal fluid from individuals with DS (n=229) in the Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) cohort to assess the evolution of AD pathophysiology from asymptomatic to dementia stages and compared the proteomic biomarker changes in DS to those observed in LOAD and ADAD. Although many proteomic alterations were shared across DS, LOAD, and ADAD, DS demonstrated more severe changes in immune-related proteins, extracellular matrix pathways, and plasma proteins likely related to blood-brain barrier dysfunction compared to LOAD. These changes were present in young adults with DS prior to the onset of Aβ or tau pathology, suggesting they are associated with trisomy 21 and may serve as risk factors for DSAD. DSAD showed an earlier increase in markers of axonal and white matter pathology and earlier changes in markers potentially associated with cerebral amyloid angiopathy compared to ADAD. The unique features of DSAD may have important implications for treatment strategies in this population.
HostingRepository	PRIDE
AnnounceDate	2025-07-08
AnnouncementXML	Submission_2025-07-08_09:51:22.193.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Eric Dammer
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2025-06-05 12:45:26	ID requested
⏵ 1	2025-07-08 09:51:23	announced

10.1038/s41467-025-61054-z;

Montoliu-Gaya L, Bian S, Dammer EB, Alcolea D, Sauer M, Mart, á, -Ariza M, Ashton NJ, Belbin O, Fuchs J, Watson CM, Ping L, Duong DM, Nilsson J, Barroeta I, Lantero-Rodriguez J, Videla L, Benejam B, Roberts BR, Blennow K, Seyfried NT, Levey AI, Carmona-Iragui M, Gobom J, Lle, ó A, Wisniewski T, Zetterberg H, Fortea J, Johnson ECB, s disease. Nat Commun, 16(1):6003(2025) [pubmed]

submitter keyword: estimated year of onset,CSF Proteomics, Down's Syndrome

Juan Fortea
contact affiliation	Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain
contact email	jfortea@santpau.cat
lab head
Eric Dammer
contact affiliation	Emory University
contact email	edammer@emory.edu
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2025/07/PXD064699

PRIDE project URI

• PRIDE
  1. PXD064699
     1. Label: PRIDE project
     2. Name: Down Syndrome and Alzheimer Disease CSF Proteome