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

Rukiye Çığırtaş,

Celal Bulğay, Hasan Hüseyin Kazan

et al.

Metabolites, Journal Year: 2024, Volume and Issue: 14(12), P. 684 - 684

Published: Dec. 5, 2024

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

Language: Английский

Transcriptional profiling of exosomes derived from serum of patients with rare earth pneumoconiosis by RNA-sequencing and PI3K/Akt pathway is activated in lung of mice exposed to rare earth Nd2O3. DOI Creative Commons
Yanrong Gao, Shurui Wang,

Yuanqi He

et al.

Toxicology Letters, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 1, 2025

Language: Английский

Citations

0
How mass spectrometry can be exploited to study AMPK DOI
Mark H. Rider, Didier Vertommen, Manuel Johanns

et al.

Essays in Biochemistry, Journal Year: 2024, Volume and Issue: 68(3), P. 283 - 294

Published: July 26, 2024

AMP-activated protein kinase (AMPK) is a key regulator of metabolism and recognised target for the treatment metabolic diseases such as Type 2 diabetes (T2D). Here, we review how mass spectrometry (MS) can be used to study short-term control by AMPK via phosphorylation long-term due changes in expression. We discuss MS quantify subunit levels tissues from different species. propose hydrogen-deuterium exchange (HDX)-MS investigate molecular mechanisms activation thermoproteomic profiling (TPP) assess off-target effects pharmacological activators/inhibitors. Lastly, because large data sets are generated, consider approaches that their interpretation.

Language: Английский

Citations

1
Integrated single cell functional-proteomic profiling of human skeletal muscle reveals a shift in cellular specificity in nemaline myopathy DOI Creative Commons
Robert A. Seaborne, Roger Moreno‐Justicia, Jenni Laitila

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 17, 2024

Abstract Skeletal muscle is a complex syncytial arrangement of an array cell types and, in the case specific cells (myofibers), sub-types. There exists extensive heterogeneity skeletal functional behaviour and molecular landscape, at composition, myofiber sub-type intra-myofiber level. This highlights limitations currently applied methodological approaches, which has stagnated our understanding fundamental biology both healthy myopathic contexts. Here, we developed novel approach that combines fluorescence based assay for biophysical examination sarcomeric protein, myosin, coupled with same-myofiber high sensitivity proteome profiling, termed Single Myofiber Protein Function-Omics (SMPFO). Successfully applying this to human tissue, identify integrate relationship between functionality underlying proteomic landscape guides divergent, but physiologically important, By SMPFO two forms nemaline myopathy ( ACTA1 TNNT1 mutations), reveal significant reduction divergence sub-types, across behaviour. Collectively, develop as study greater specificity, accuracy resolution then methods, facilitating advancement SkM tissue diseased states.

Language: Английский

Citations

0
The ARK2N (C18ORF25) Genetic Variant Is Associated with Muscle Fiber Size and Strength Athlete Status DOI Creative Commons

Rukiye Çığırtaş,

Celal Bulğay, Hasan Hüseyin Kazan

et al.

Metabolites, Journal Year: 2024, Volume and Issue: 14(12), P. 684 - 684

Published: Dec. 5, 2024

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

Language: Английский

Citations

0