Effects of genetic polymorohisms on skeletal muscle characteristits(Fostering Joint International Research)

• Project/Area Number: 16KK0188
• Research Category: Fund for the Promotion of Joint International Research (Fostering Joint International Research)
• Allocation Type: Multi-year Fund
• Research Field: Sports science
• Research Institution: Juntendo University
• Principal Investigator: Fuku Noriyuki 順天堂大学, スポーツ健康科学部, 先任准教授 (40392526)
• Project Period (FY): 2017 – 2021
• Project Status: Completed (Fiscal Year 2021)
• Budget Amount: ¥14,560,000 (Direct Cost: ¥11,200,000、Indirect Cost: ¥3,360,000)
• Keywords: 筋線維組成 / 遅筋 / ゲノムワイド関連解析 / 遺伝子多型 / 遺伝子発現 / 鉄状態 / 競技力 / ミトコンドリア機能

Outline of Final Research Achievements

Muscle fiber composition is generally classified into two groups, namely fast- and slow-twitch muscle fibres. A high proportion of slow-twitch muscle fibres are related to endurance performance and a high proportion of fast-twitch muscle fibres are related sprint performance. The aim of the present study was to identify genetic polymorphisms that is associated with muscle fiber composition by using genome-wide association study in 212 Japanese general population. We found 146 single nucleotide polymorphisms (SNPs) that could be associated with the proportion of slow twitch muscle fibres from Japanese discovery cohort. Among them, meta-analysis in Japanese and Europeans revealed that 16 SNPs from four gene loci were associated with the proportion of slow muscle fibres.

Academic Significance and Societal Importance of the Research Achievements

世界トップレベルの選手を対象として競技力を左右する筋線維組成を解析すると、短距離系競技に優れた選手は速筋線維の割合が、長距離系競技で優れた選手は遅筋線維の占める割合が高い。また、近年の研究では筋線維組成が糖尿病や高血圧といった生活習慣病にも関連することが明らかになってきている。筋線維組成は遺伝の要因が強く、運動トレーニングによる筋線維組成の変化は小さいと一般的に考えられている。本研究課題で、筋線維組成を規定する遺伝要因を明らかにできれば、遺伝情報を用いた適正種目の選択だけでなく、2型糖尿病や肥満といった疾病リスクに及ぼす影響にも貢献できると考えられる。

Research Products

• [Int'l Joint Research] ルンド大学(スウェーデン) (2019)
  • Year and Date: 2019-02-04
• [Journal Article] The MOTS-c K14Q polymorphism in the mtDNA is associated with muscle fiber composition and muscular performance (2022)
  • Author(s): Kumagai Hiroshi、Fuku Noriyuki et al.
  • Journal Title: Biochimica et Biophysica Acta (BBA) - General Subjects Volume: 1866 Issue: 2 Pages: 130048-130048
  • DOI: 10.1016/j.bbagen.2021.130048
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] MOTS-c reduces myostatin and muscle atrophy signaling (2021)
  • Author(s): Kumagai Hiroshi、Coelho Ana Raquel、Wan Junxiang、Mehta Hemal H.、Yen Kelvin、Huang Amy、Zempo Hirofumi、Fuku Noriyuki、Maeda Seiji、Oliveira Paulo J.、Cohen Pinchas、Kim Su-Jeong
  • Journal Title: American Journal of Physiology-Endocrinology and Metabolism Volume: 320 Issue: 4 Pages: E680-E690
  • DOI: 10.1152/ajpendo.00275.2020
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genotype Score for Iron Status Is Associated with Muscle Fiber Composition in Women (2021)
  • Author(s): Takaragawa Mizuki、Tobina Takuro、Shiose Keisuke、Kakigi Ryo、Tsuzuki Takamasa、Ichinoseki-Sekine Noriko、Kumagai Hiroshi、Zempo Hirofumi、Miyamoto-Mikami Eri、Kobayashi Hiroyuki、Naito Hisashi、Fuku Noriyuki
  • Journal Title: Genes Volume: 13 Issue: 1 Pages: 5-5
  • DOI: 10.3390/genes13010005
  • Peer Reviewed
• [Presentation] Association between iron status-related TMPRSS6 rs855791 T/C polymorphism and muscle fiber composition (2021)
  • Author(s): Mizuki Takaragawa, Eri Miyamoto-Mikami, Takuro Tobina, Keisuke Shiose, Kazuhiko Higashida, Noriko Sekine, Ryo Kakigi, Takamasa Tsuzuki, Hiroyuki Kobayashi, Hisashi Naito, Noriyuki Fuku
  • Organizer: 24th Annual Congress of the European College of Sport Science
  • Int'l Joint Research