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Gene polymorphisms and fiber-type composition of human skeletal muscle

Ahmetov, II, Vinogradova, OL and Williams, AG (2012) Gene polymorphisms and fiber-type composition of human skeletal muscle. International Journal of Sport Nutrition and Exercise Metabolism, 22 (4). pp. 292-303. ISSN 1526-484X

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The ability to perform aerobic or anaerobic exercise varies widely among individuals, partially depending on their muscle-fiber composition. Variability in the proportion of skeletal-muscle fiber types may also explain marked differences in aspects of certain chronic disease states including obesity, insulin resistance, and hypertension. In untrained individuals, the proportion of slow-twitch (Type I) fibers in the vastus lateralis muscle is typically around 50% (range 5-90%), and it is unusual for them to undergo conversion to fast-twitch fibers. It has been suggested that the genetic component for the observed variability in the proportion of Type I fibers in human muscles is on the order of 40-50%, indicating that muscle fiber-type composition is determined by both genotype and environment. This article briefly reviews current progress in the understanding of genetic determinism of fiber-type proportion in human skeletal muscle. Several polymorphisms of genes involved in the calcineurin-NFAT pathway, mitochondrial biogenesis, glucose and lipid metabolism, cytoskeletal function, hypoxia and angiogenesis, and circulatory homeostasis have been associated with fiber-type composition. As muscle is a major contributor to metabolism and physical strength and can readily adapt, it is not surprising that many of these gene variants have been associated with physical performance and athlete status, as well as metabolic and cardiovascular diseases. Genetic variants associated with fiber-type proportions have important implications for our understanding of muscle function in both health and disease. © 2012 Human Kinetics, Inc.

Item Type: Article
Additional Information: Accepted author manuscript version reprinted, by permission, from International Journal of Sport Nutrition and Exercise Metabolism, 2012, 22 (4): 292-303, https://doi.org/10.1123/ijsnem.22.4.292. © Human Kinetics, Inc.
Uncontrolled Keywords: Science & Technology; Life Sciences & Biomedicine; Nutrition & Dietetics; Sport Sciences; muscle function; sport physiology; metabolism; body composition; fiber-type proportion; PROLIFERATOR-ACTIVATED-RECEPTOR; ANGIOTENSIN-CONVERTING ENZYME; VASTUS LATERALIS MUSCLE; PPAR-ALPHA GENE; ALPHA-ACTININ-3 DEFICIENCY; COACTIVATOR PGC-1-BETA; INSULIN-RESISTANCE; ACTN3 GENOTYPE; BLOOD-PRESSURE; SINGLE FIBERS; Cytoskeleton; Humans; Calcineurin; Angiogenesis Inducing Agents; Signal Transduction; Body Composition; Homeostasis; Polymorphism, Genetic; Carbohydrate Metabolism; Lipid Metabolism; NFATC Transcription Factors; Muscle Fibers, Skeletal; Athletes; Organelle Biogenesis; Hypoxia; Angiogenesis Inducing Agents; Athletes; Body Composition; Calcineurin; Carbohydrate Metabolism; Cytoskeleton; Homeostasis; Humans; Hypoxia; Lipid Metabolism; Muscle Fibers, Skeletal; NFATC Transcription Factors; Organelle Biogenesis; Polymorphism, Genetic; Signal Transduction; 1106 Human Movement and Sports Sciences; 1116 Medical Physiology; Sport Sciences
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions: Sport & Exercise Sciences
Publisher: Human Kinetics
SWORD Depositor: A Symplectic
Date Deposited: 01 May 2024 12:40
Last Modified: 01 May 2024 12:40
DOI or ID number: 10.1123/ijsnem.22.4.292
URI: https://researchonline.ljmu.ac.uk/id/eprint/23068
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