Proteomic Profiling of Tears in Blau Syndrome Patients in Identification of Potential Disease Biomarkers.

ABSTRACT: Blau syndrome (BS) is a rare autoinflammatory granulomatosis characterized by granulomatous arthritis, uveitis, and dermatitis. Ocular complications are particularly severe in BS, significantly contributing to morbidity. This study aims to identify potential biomarkers for BS ocular degeneration through proteomic profiling of tear samples from affected patients. Seven subjects from the same family, including four carriers of the BS-associated NOD2 mutation (p.E383K), were recruited alongside healthy controls. Tear samples were collected using Schirmer strips and analyzed via mass spectrometry. A total of 387 proteins were identified, with significant differences in protein expression between BS patients, healthy familial subjects, and healthy controls. Key findings include the overe

SUBMITTER: Galozzi P 

PROVIDER: S-EPMC11312868 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature