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

ABSTRACT: 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.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Retina

SUBMITTER: Guillaume CHEVREUX

LAB HEAD: Isabelle Audo

PROVIDER: PXD060682 | Pride | 2025-07-25

REPOSITORIES: Pride

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			Action	DRS
	2319001_Bri23_Mut_1_S1-C3_1_6861.d.refined.mgf	Mgf
	2319001_Bri23_Mut_1_S1-C3_1_6861.d.zip	Other
	2319001_Bri23_Mut_2_S1-C9_1_6867.d.refined.mgf	Mgf
	2319001_Bri23_Mut_2_S1-C9_1_6867.d.zip	Other
	2319001_Bri23_Mut_3_S1-D3_1_6873.d.refined.mgf	Mgf

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