Proteomic profiling of dysferlin microdeletion–induced skeletal muscle remodeling in a knock-in mouse model

ABSTRACT: This project examines the proteomic impact of dysferlin deficiency using a genetically defined knock-in mouse model carrying a five-nucleotide microdeletion in the Dysf gene that corresponds to a pathogenic variant identified in limb-girdle muscular dystrophy type R2 (LGMD-R2) patients. Dysferlin is essential for sarcolemmal membrane repair in skeletal muscle, and its loss leads to progressive muscle degeneration associated with inflammation and tissue remodeling. Despite existing dysferlin-deficient mouse models, variant-specific proteomic characterization in vivo remains limited. Skeletal muscle tissues from wild-type and Dysf Δ5/Δ5 mice were analyzed by global, label-free proteomics to define molecular pathways associated with dysferlin loss. Proteins were extracted from muscle lysates, digested using an S-Trap–based workflow, and analyzed by high-resolution nanoLC–MS/MS. Data were acquired in data-independent acquisition mode using dia-PASEF on a trapped ion mobility mass spectrometer, enabling reproducible and comprehensive protein quantification.

INSTRUMENT(S):

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Skeletal Muscle

DISEASE(S): Limb-girdle Muscular Dystrophy

SUBMITTER: Wei-Chi Ku  

LAB HEAD: Wei-Chi Ku

PROVIDER: PXD073710 | Pride | 2026-04-09

REPOSITORIES: Pride