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Proteomic insight into Susac syndrome utilising tear fluid - case study

ABSTRACT: 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.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Tear

SUBMITTER: Miroslav Marcin

LAB HEAD: Ján Sabo

PROVIDER: PXD070890 | Pride | 2025-12-15

REPOSITORIES: Pride

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			Action	DRS
	20230629_50cm_5hour_metoda17a_ML_1ul_meranie.msf	Msf
	20230629_50cm_5hour_metoda17a_ML_1ul_meranie1.raw	Raw
	20230629_50cm_5hour_metoda17a_ML_1ul_meranie2.raw	Raw
	20230629_50cm_5hour_metoda17a_SS_1ul_meranie.msf	Msf
	20230629_50cm_5hour_metoda17a_SS_1ul_meranie1.raw	Raw

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Project description:Glycosylation of proteins is one of the most common post-translational modification (PTM) and plays important regulatory functions in diverse biological processes such as protein stability or cell signaling. Accordingly, glycoproteins are also a consistent part of the human tear film proteome maintaining the proper function of the ocular surface and forming the first defense barrier of the ocular immune system. Irregularities in the glycoproteomic composition of the tear film might promote development of chronic eye diseases indicating glycoproteins as valuable source for biomarker discovery or drug target identification. The present study aimed to develop a lectin-based affinity method for the enrichment and concentration of tear glycoproteins/glycopeptides and the characterization of their specific N-glycosylation sites by high-resolution mass spectrometry (MS). For method development and evaluation, we accumulated first native glycoproteins from human tear sample pools and assessed the enrichment efficiency of different lectin column systems by 1D gel electrophoresis and specific protein stainings (Coomassie and glycoproteins). The best-performing multi-lectin column system (comprising the four lectins ConA, JAC, WGA and UEA I, termed as 4L) was applied for glycopeptide enrichment from human tear sample digests followed by MS-based detection and localization of their specific N-glycosylation sites. As main result, the present study identified in total 26 N glycosylation sites of 11 N-glycoproteins in tear sample pools of healthy individuals (n=3 biological sample pools). Amongst others, we identified tear film proteins lactotransferrin (N497 and N642, LTF), Ig heavy chain constant α-1 (N144 and 340, IGHA1), prolactin-inducible protein (N105, PIP) as well as extracellular lacritin (N105, LACRT) as highly reliable and significant N glycoproteins, which were already associated with the pathogenesis of various chronic eye diseases such as the dry eye syndrome (DES). In conclusion, the results of the present study will serve as important tear film N-glycoprotein catalogue for future studies focusing the human tear film and ocular surface-related inflammatory diseases.

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Proteomic insight into Susac syndrome utilising tear fluid - case study

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