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Genes and exercise intolerance: insights from McArdle disease
Gisela Nogales-Gadea1, Richard Godfrey2, Alfredo Santalla3
1Translational Research Laboratory in Neuromuscular Diseases, Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain; gnogalga7@gmail.com.
Physiological Genomics
|October 15, 2015
Summary
McArdle disease, caused by a PYGM gene defect, results in inability to use muscle glycogen. Moderate exercise and carbohydrate intake are beneficial, and physical activity reduces disease severity.
Area of Science:
- Biochemistry
- Genetics
- Exercise Physiology
Background:
- McArdle disease (glycogen storage disease type V) stems from a deficiency in myophosphorylase, an enzyme crucial for muscle glycogen breakdown.
- This deficiency is encoded by the PYGM gene, leading to impaired skeletal muscle energy metabolism.
Purpose of the Study:
- To review the pathophysiological, genotypic, and phenotypic characteristics of McArdle disease.
- To explore the interactions between these features and current management strategies.
- To highlight the significance of McArdle disease in understanding exercise metabolism and genomics.
Main Methods:
- Literature review of pathophysiological, genotypic, and phenotypic features of McArdle disease.
- Analysis of existing treatment options and their efficacy.
- Discussion of the role of physical activity and PYGM genotyping.
Main Results:
- McArdle disease is characterized by a complete inability to utilize muscle glycogen stores.
- Moderate-intensity exercise combined with carbohydrate ingestion is the primary effective treatment.
- Regular physical activity has been shown to mitigate the clinical severity of the disorder.
Conclusions:
- McArdle disease serves as a model for human exercise intolerance.
- Understanding this monogenic disorder offers insights into exercise metabolism and genomics.
- PYGM genotyping is recommended for personalized exercise medicine and future research.
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