PXD070890

PXD070890 is an original dataset announced via ProteomeXchange.

Title	Proteomic insight into Susac syndrome utilising tear fluid - case study
Description	Susac Syndrome (SuS) is a rare autoimmune neurovascular disorder characterised by sudden visual loss, hearing disturbances, and encephalopathy. Pathology affects the small vessels of the brain, retina, and inner ear. Diagnosing SuS is challenging due to its rarity, complexity, and nonspecific symptoms. This single-case study presents a proteomic analysis of tear fluid from a patient with SuS, revealing upregulated proteins involved in immune dysregulation, cytoskeletal remodelling, and cellular repair. The activation of inflammatory proteins (e.g., S100), cytoskeletal and motility-related proteins (e.g., ezrin, radixin), and membrane transport proteins (e.g., aquaporin-5, chloride intracellular channel protein), together with activation of MAPK and NF-κB signalling pathways, highlights immune dysregulation and neurovascular damage in SuS. Hyperactivation of the MAPK and NF-κB pathways leads to chronic neuroinflammation and decreased expression of neutrophil defensin 1, indicating a shift from a protective to a chronic inflammatory response. These findings from the personalized proteomic pattern of SuS support the potential of tear fluid proteomics for diagnosing SuS and offer valuable insights into its underlying molecular mechanisms.
HostingRepository	PRIDE
AnnounceDate	2025-12-15
AnnouncementXML	Submission_2025-12-15_04:18:26.665.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD070890
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Miroslav Marcin
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Eclipse

Revision	Datetime	Status	ChangeLog Entry
0	2025-11-18 07:33:29	ID requested
⏵ 1	2025-12-15 04:18:27	announced

10.6019/PXD070890;

10.3390/APP152312446;

submitter keyword: case study,Susac syndrome, tear fluid, proteome

Ján Sabo
contact affiliation	Pavol Jozef Šafárik University in Košice
contact email	jan.sabo@upjs.sk
lab head
Miroslav Marcin
contact affiliation	University of Pavol Jozef Šafárik in Košice
contact email	miroslav.marcin@upjs.sk
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD070890
     1. Label: PRIDE project
     2. Name: Proteomic insight into Susac syndrome utilising tear fluid - case study