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12 30, 2023;14 (1):

Biomolecules of Muscle Fatigue in Metabolic Myopathies.

Erika Schirinzi, Giulia Ricci, Francesca Torri, Michelangelo Mancuso, Gabriele Siciliano
Author Information
  1. Erika Schirinzi: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy.
  2. Giulia Ricci: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy.
  3. Francesca Torri: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy.
  4. Michelangelo Mancuso: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy. ORCID
  5. Gabriele Siciliano: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy. ORCID
PMID: 38254650 DOI: 10.3390/biom14010050

Abstract

Metabolic myopathies are a group of genetic disorders that affect the normal functioning of muscles due to abnormalities in metabolic pathways. These conditions result in impaired energy production and utilization within muscle cells, leading to limitations in muscle function with concomitant occurrence of related signs and symptoms, among which fatigue is one of the most frequently reported. Understanding the underlying molecular mechanisms of muscle fatigue in these conditions is challenging for the development of an effective diagnostic and prognostic approach to test targeted therapeutic interventions. This paper outlines the key biomolecules involved in muscle fatigue in metabolic myopathies, including energy substrates, enzymes, ion channels, and signaling molecules. Potential future research directions in this field are also discussed.

Keywords

biomolecules metabolic myopathies muscle fatigue

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MeSH Term

Humans
Muscle Fatigue
Muscular Diseases
Metabolism, Inborn Errors
Muscles
Muscle Cells
Journal Article Review
Article has an altmetric score of 1

Word Cloud

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