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Updated: Jul 4, 2026

Skeletal Muscle Gender Dimorphism from Proteomics

Skeletal Muscle Gender Dimorphism from Proteomics

Published on: December 14, 2011

Phenotype-specific muscle proteomic profiling in titinopathies.

Aurélien Perrin^1,2, Marie-Rocio Casenave-Camgaston^3,4, Baptiste Rabillard⁴

¹Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093, Montpellier, France. aurelien.perrin@ext.inserm.fr.

Acta Neuropathologica Communications

|July 3, 2026

Summary

Titinopathies, complex neuromuscular disorders, show distinct protein changes in arthrogryposis and myofibrillar myopathy phenotypes. This research identifies specific deregulations, aiding in biomarker discovery and targeted therapies for these conditions.

Keywords:

Mass spectrometry Myopathies Proteomic Titinopathies

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Last Updated: Jul 4, 2026

Skeletal Muscle Gender Dimorphism from Proteomics

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Published on: December 14, 2011

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

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Published on: July 15, 2014

TMT Sample Preparation for Proteomics Facility Submission and Subsequent Data Analysis

TMT Sample Preparation for Proteomics Facility Submission and Subsequent Data Analysis

Published on: June 8, 2020

Area of Science:

Neuromuscular Disorders
Molecular Biology
Genetics

Background:

Titinopathies are complex neuromuscular disorders with diverse phenotypes, stemming from the large size of the titin gene and protein.
Understanding protein alterations is crucial for characterizing titinopathies, particularly arthrogryposis and myofibrillar myopathy phenotypes.

Purpose of the Study:

To analyze and compare protein deregulations in French patients with arthrogryposis and myofibrillar myopathy phenotypes of titinopathies.
To identify phenotype-specific protein changes and disrupted signaling networks in titinopathies.

Main Methods:

Muscle biopsies from patients with titinopathies (arthrogryposis and myofibrillar myopathy phenotypes) and control individuals were analyzed.
Mass spectrometry was employed to quantify protein level changes in the patient cohorts.

Main Results:

Specific protein deregulations were identified for each phenotype: fibrosis and actomyosin complex involvement in arthrogryposis, and cytoskeleton-related muscle contraction system impact in myofibrillar myopathy.
Quantitative proteomic analysis revealed disrupted signaling networks underlying titinopathies.

Conclusions:

The study provides a detailed characterization of protein alterations in distinct titinopathy phenotypes.
Findings support the identification of phenotype-specific biomarkers and may guide the development of targeted therapies for titinopathies.