Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.

ABSTRACT:

Background

Nemaline myopathy is a rare congenital muscle disorder characterized by the presence of nemaline rods, protein aggregates, in muscle fibers. Pathogenic variants in several genes, most commonly NEB and ACTA1, which encode thin filament proteins of the sarcomere, have been implicated in its etiology. Currently, there is no cure for nemaline myopathy, underscoring the need to identify disease-modifying targets for therapeutic development.

Methods

In this study, we employed quantitative nanoscale liquid chromatography-tandem mass spectrometry (LC-MS³) with labeled protein analysis on muscle tissue from five normal controls and seven infants diagnosed with nemaline myopathy due to NEB or ACTA1 pathogenic variants.

Results

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SUBMITTER: Hedberg-Oldfors C 

PROVIDER: S-EPMC12531377 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature