The ARK2N (C18ORF25) Genetic Variant Is Associated with Muscle Fiber Size and Strength Athlete Status

rtaş, R, Bulgay, C, Kazan, HH, Akman, O ORCID: 0000-0001-5157-7430, Sporiš, G, John, G, Yusupov, RA, Sultanov, RI, Zhelankin, AV ORCID: 0000-0002-3014-2005, Semenova, EA, Larin, AK, Kulemin, NA, Generozov, EV ORCID: 0000-0002-6314-4883, Jurko, D and Ahmetov, II ORCID: 0000-0002-6335-4020 (2024) The ARK2N (C18ORF25) Genetic Variant Is Associated with Muscle Fiber Size and Strength Athlete Status. Metabolites, 14 (12). pp. 1-13. ISSN 2218-1989

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Abstract

Background: Data on the genetic factors contributing to inter-individual variability in muscle fiber size are limited. Recent research has demonstrated that mice lacking the Arkadia (RNF111) N-terminal-like PKA signaling regulator 2N (Ark2n; also known as C18orf25) gene exhibit reduced muscle fiber size, contraction force, and exercise capacity, along with defects in calcium handling within fast-twitch muscle fibers. However, the role of the ARK2N gene in human muscle physiology, and particularly in athletic populations, remains poorly understood. The aim of this study was threefold: (a) to compare ARK2N gene expression between power and endurance athletes; (b) to analyze the relationship between ARK2N gene expression and muscle fiber composition; and (c) to investigate the association between the functional variant of the ARK2N gene, muscle fiber size, and sport-related phenotypes. Results: We found that ARK2N gene expression was significantly higher in power athletes compared to endurance athletes (p = 0.042) and was positively associated with the proportion of oxidative fast-twitch (type IIA) muscle fibers in untrained subjects (p = 0.017, adjusted for age and sex). Additionally, we observed that the ARK2N rs6507691 T allele, which predicts high ARK2N gene expression (p = 3.8 × 10−12), was associated with a greater cross-sectional area of fast-twitch muscle fibers in strength athletes (p = 0.015) and was over-represented in world-class strength athletes (38.6%; OR = 2.2, p = 0.023) and wrestlers (33.8%; OR = 1.8, p = 0.044) compared to controls (22.0%). Conclusions: In conclusion, ARK2N appears to be a gene specific to oxidative fast-twitch myofibers, with its functional variant being associated with muscle fiber size and strength-athlete status.

Item Type:	Article
Uncontrolled Keywords:	polymorphism; genotype; gene expression; SNP; athlete status; weightlifting; sport; molecular physiology; muscle hypertrophy; skeletal muscle; SNP; athlete status; gene expression; genotype; molecular physiology; muscle hypertrophy; polymorphism; skeletal muscle; sport; weightlifting; Genetics; 0301 Analytical Chemistry; 0601 Biochemistry and Cell Biology; 1103 Clinical Sciences
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions:	Sport and Exercise Sciences
Publisher:	MDPI AG
Date of acceptance:	4 December 2024
Date of first compliant Open Access:	17 January 2025
Date Deposited:	17 Jan 2025 14:19
Last Modified:	03 Jul 2025 16:15
DOI or ID number:	10.3390/metabo14120684
URI:	https://researchonline.ljmu.ac.uk/id/eprint/25316

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