Study record
The MOTS-c K14Q polymorphism in the mtDNA is associated with muscle fiber composition and muscular performance
Kumagai H, Natsume T, Kim SJ et al. · Biochim Biophys Acta Gen Subj · 2022
What this study reported
Reported that carriers of the C allele of the East Asian-specific m.1382A>C variant, which produces MOTS-c K14Q, had a higher proportion of MHC-IIx fibres, and that men with the C allele had higher peak leg flexion and extension torque. C-allele frequency was higher in sprint and power athletes than controls and lowest in endurance athletes, and mice given a MOTS-c neutralising antibody showed higher MHC-fast expression.
Limitations
Observational genetic associations in a single East Asian population with modest subgroup sizes, strength measured only in men, and the animal arm uses antibody neutralisation in young male mice as an indirect mimic of the variant.
Study record
| Study model | Human observational |
|---|---|
| Substance studied | MT-RNR1 / K14Q variantStudies of the m.1382A>C (K14Q) variant or other MT-RNR1 variation. |
| Species | human, mouse |
| System studied | Japanese adults genotyped for m.1382A>C with muscle fibre composition and strength testing, athlete and control allele-frequency groups, and young male mice given a MOTS-c neutralising antibody |
| Population | healthy Japanese adults, physically active young Japanese men, and Japanese athletes with ethnicity-matched controls |
| Design | Genetic association study with supporting controlled animal experiment |
| Sample size as reported | 211 individuals for fibre composition (102 men, 109 women); 86 physically active young men for strength; 721 athletes and 873 controls for allele frequency |
| Control group | A-allele carriers and ethnicity-matched non-athlete controls; control-injected mice |
| Route (data field only) | Not reported |
| Endpoints measured | myosin heavy chain isoform proportions; peak torque of leg flexion and extension; allele frequency by athlete type; MHC-fast and MHC-slow expression in mice |
| Pathways measured | Other |
| Research areas | Skeletal muscle · Exercise |
| Evidence tier | B — Other human study |
| Publication types | Journal Article, Research Support, N.I.H., Extramural |
Appraisal
Each dimension is recorded separately and never combined into a single score. A study can be well controlled and still tell you little about people.
- Relevance to MOTS-c
- Direct
- Model applicability
- Human
- Sample size
- Adequate
- Controls
- Appropriate
- Outcome validity
- Surrogate
- Support for its own conclusion
- Moderate
Provenance
- Bibliographic fields retrieved from PubMed E-utilities efetch (title, journal, date, authors, DOI) on 2026-11-11.
- Annotated from the published abstract.
- Editorial review: approved (2026-11-11).
- Classification follows the site methodology; the record describes the study, not what MOTS-c does in people.