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Front. Physiol. | doi: 10.3389/fphys.2019.00526

Cellular aspects of muscle specialization demonstrate genotype - phenotype interaction effects in athletes

  • 1Laboratory for Muscle Plasticity, Department of Orthopedics, Balgrist University Hospital, University of Zurich, Switzerland

Introduction: Gene polymorphisms are associated with athletic phenotypes relying on maximal or continued power production and affect the specialization of skeletal muscle composition with endurance or strength training of untrained subjects. We tested whether prominent polymorphisms in genes for angiotensin converting enzyme (ACE), tenascin-C (TNC) and actinin-3 (ACTN3) are associated with the differentiation of cellular hallmarks of muscle metabolism and contraction in high level athletes.
Methods: Muscle biopsies were collected from m. vastus lateralis of three distinct phenotypes; endurance athletes (n = 29), power athletes (n = 17), and untrained non-athletes (n=63). Metabolism-, and contraction-related cellular parameters (such as capillary-to-fiber ratio, capillary length density, volume densities of mitochondria and intramyocellular lipid, fiber mean cross sectional area (MCSA) and volume densities of myofibrils) and the volume densities of sarcoplasma were analyzed by quantitative electron microscopy of the biopsies. Gene polymorphisms of ACE (I/D (insertion/deletion), rs1799752), TNC (A/T, rs2104772) and ACTN3 (C/T, rs1815739) were determined using high-resolution melting polymerase chain reaction (HRM-PCR). Genotype distribution was assessed using Chi2 tests. Genotype and phenotype effects were analyzed by univariate or multivariate analysis of variance and post-hoc test of Fisher. P-values below 0.05 were considered statistically significant.
Results: The athletes demonstrated the specialization of metabolism- and contraction-related cellular parameters. Differences in cellular parameters could be identified for genotypes rs1799752 and rs2104772, and localized post-hoc when taking the interaction with the phenotype into account. Between endurance and power athletes this concerned effects on capillary length density for rs1799752 and rs2104772, fiber type distribution and volume densities of myofibrils (rs1799752), and MSCA (rs2104772). Endurance athletes carrying the I-allele of rs1799752 demonstrated 50%-higher volume densities of mitochondria and sarcoplasma, when power athletes that carried only the D-allele showed the highest fiber MCSAs and a lower percentage of slow type muscle fibers.
Discussion: ACE and tenascin-C gene polymorphisms are associated with differences in cellular aspects of muscle metabolism and contraction in specifically-trained high level athletes. Quantitative differences in muscle fiber type distribution and composition, and capillarisation in knee extensor muscle explain, in part, identified associations of the insertion/deletion genotypes of ACE (rs1799752) with endurance- and power-type Sports.

Keywords: Muscle, Athlete, Mitochondria, myofibril, capillary, gene, angiotensin, Tenascin

Received: 11 Jan 2019; Accepted: 12 Apr 2019.

Edited by:

Giuseppe D'Antona, University of Pavia, Italy

Reviewed by:

Julien Ochala, King's College London, United Kingdom
Carlo Reggiani, University of Padova, Italy  

Copyright: © 2019 Flück, Kramer, Kasper, Fitze, Franchi and Valdivieso. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Prof. Martin Flück, University of Zurich, Laboratory for Muscle Plasticity, Department of Orthopedics, Balgrist University Hospital, Zürich, M1 5GD, Switzerland,