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  • MakaleYayıncıda açık erişim2024Scopus SJRQ2
    The ARK2N (C18ORF25) Genetic Variant Is Associated with Muscle Fiber Size and Strength Athlete Status

    Çigirtas, Rukiye; Bulgay, Celal; Kazan, Hasan Hueseyin; Akman, Onur; Sporis, Goran; John, George; Yusupov, Rinat A.; Sultanov, Rinat I.; Zhelankin, Andrey V.; Semenova, Ekaterina A.

    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 x 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.

    • SDG 3 · Sağlık ve Kaliteli Yaşam
    AtıfScopus8WoS7OpenAlex8
    ScopusWeb of SciencePubMedİncele
  • MakaleAçık Erişim2021Scopus SJRQ4
    Associations between prl/rsai polymorphism and some performance traits in holstein cattle reared under organic condition

    Ozdemir, M.; Sonmez, Z.; Aksakal, V.

    The aim of this study was to ascertain the RsaI polymorphism of the Prolactin (PRL) gene of 186 organically reared Holstein cattle by PCR-RFLP method, in order to reveal the genetic variation of the population, and to reveal the relationship between PRL/RsaI genotypes and some milk yield traits. In the study, the RsaI-/- genotype frequency, RsaI+/+ genotype frequency and RsaI-/+ genotype frequency of Holstein cattle were determined as 0.26, 0.22 and 0.52, respectively. The RsaI- gene frequency was 0.52, and the RsaI+ gene frequency was 0.48. Hardy-Weinberg genetic equilibrium test showed that the distribution of genotype frequencies was determined to be in genetic equilibrium. The relationships between PRL/RsaI polymorphism and the examined milk yield traits were not significant. As a result, an economic and safe method PCR-RFLP for the detection of genetic markers, was successfully used in the determination of the 3 genotypes (RsaI-/-, RsaI-/+, and RsaI+/+) of Prolactin gene in Holstein cattle reared under organic condition, and the results was similar with previously reported literature.

    • SDG 2 · Açlığa Son
    AtıfScopus10WoS7OpenAlex5
    ScopusWeb of Scienceİncele