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ProtéoSeine – The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina

La plateforme ProtéoSeine a contribué à la publication d’un nouvel article dans Scientific reports :

The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina

Résumé :

BRI23, composed of the 23 last amino acids of the integral transmembrane protein 2B (ITM2B) C-terminus, is associated with several neurodegenerative diseases, including retinal dystrophy (RD) and familial dementia. Its role in the retina remains poorly understood. This study provides a comprehensive analysis of BRI23 interactome in the human retina. Using a peptide-bead coupling system, we identified 2302 proteins, primarily involved in mitochondrial processes, synaptic transmission and photoreceptor function. Our findings show that the BRI23-RD variant, associated with the ITM2B-related RD (IRRD), exhibits significantly altered protein interactions compared to the wild-type form. Notably, we observed an increased abundance of mitochondrial proteins and synaptic molecules, indicating a potential disruption of cellular pathways driven by the IRRD variant.

Yacoub TB, Amprou A, Letellier C, Michiels C, Navarro J, Shamieh SE, Monfort T, Azzollini S, Wohlschlegel J, Chevreux G, Legros V, Lemao M, Lenaers G, Grieve K, Argentini M, Zeitz C, Audo I. The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina. Sci Rep. 2026 Jun 23. doi: 10.1038/s41598-026-53283-z. Epub ahead of print. PMID: 42336880.