ESPE2024 Poster Category 1 Fetal and Multisystem Endocrinology (9 abstracts)
Tear proteomics in children and adolescents with congenital hyperinsulinism
Michaela Nikolaou* 1 , Eleni Aggelopoυlou ⃰ 1 , Rosa-Anna Kitani 2 , Ioannis-Anargyros Vasilakis 1 , Jerome Zoidakis 3 , Martina Samiotaki 4 , Christina Kanaka-Gantenbein* 1,2 & Nicolas C. Nicolaides* 1,2
1Division of Endocrinology, Diabetes and Metabolism and Aghia Sophia ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children’s Hospital, Athens, Greece, Athens, Greece. 2Postgraduate Course on the Science of Stress and Health Promotion, Medical School, National and Kapodistrian University of Athens, Athens, Greece. 3Biotechnology Division, Systems Biology Center, Biomedical Research Foundation of the Academy of Athens, Greece, Athens, Greece. 4Institute for Bioinnovation, Biomedical Sciences Research Center "Alexander Fleming," 16672 Vari, Greece, Vari, Greece
Background/Aim: Congenital hyperinsulinism (CHI) is a group of genetic disorders characterized by impaired insulin secretion, resulting in recurrent hypoglycaemia. Aim of this study is to investigate the proteomic profile in tear samples in children and adolescents with congenital hyperinsulinism who are treated and followed up at our Division. The tears’ proteomic profile will be correlated with the clinical presentation and laboratory data of the patients.
Methods: Ten children and adolescents with CHI as well as 10 healthy sex- and age-matched controls were enrolled in the study. The age ranged from 4 to 17 years. There were no comorbidities. Tear proteins were isolated from a total of 20 tear samples and were digested according to the Sp3 protocol. Peptides were separated by high-performance liquid chromatography attached to a Q Exactive HF-X mass spectrometer for identification and quantification with DIA-NN software. Statistical and bioinformatic analysis was performed with Perseus and Metascape software.
Results: A total of 3901 proteins were identified in all tear samples. Patients with CHI show higher concentrations of calprotectin (proteins S100A8 and S100A9) and immunoglobulins and lower concentrations of keratins compared to healthy controls. The differentially expressed proteins between the two groups appear to be involved in many biological pathways such as neutrophil degranulation, activation and adaptive immune response, as well as in stratum corneum formation. Moreover, proteins derived from exosomes have also been identified.
Conclusion: Tears protein profile of children and adolescents with CHI compared to healthy age- and sex-matched controls revealed differential expression of proteins involved in pathways of inflammation, immune response and corneal barrier structure. The modified profile of children and adolescents with CHI could serve in the identification of early biomarkers of long-term complications of the disease in these patients.
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