Are serum MOTS-c levels and MOTS-c m.1382A>C polymorphism related to polycystic ovary syndrome? — VialBase Research
MOTS-c is associated with reduced insulin resistance and obesity
- MOTS-c is associated with reduced insulin resistance and obesity
- m.1382A>C polymorphism previously linked to increased type 2 diabetes risk in men
- First study exploring this polymorphism in adolescents with PCOS
- Investigated differences in MOTS-c levels between PCOS and non-PCOS adolescents
- Evaluated associations between MOTS-c levels and metabolic parameters
Summary
Case-control study in adolescents aged 12-18 investigating serum MOTS-c levels and the m.1382A>C polymorphism in the context of polycystic ovary syndrome (PCOS). PCOS patients were recruited based on irregular menstrual cycles and clinical/biochemical hyperandrogenism. The study aimed to determine if MOTS-c levels differ between PCOS and non-PCOS adolescents and whether the m.1382A>C variant associates with the PCOS metabolic phenotype.
Key Findings
- MOTS-c is a mitochondria-derived peptide inversely associated with insulin resistance
- The m.1382A>C polymorphism results in a K14Q amino acid substitution in the MOTS-c peptide
- This variant was previously linked to type 2 diabetes risk in East Asian men
- First investigation of this polymorphism in a PCOS population
- Highlights MOTS-c’s role at the intersection of mitochondrial function and metabolic disease
Relevance to MOTS-c
Important human data linking MOTS-c to real clinical metabolic conditions. The PCOS/insulin resistance connection reinforces MOTS-c’s role in metabolic homeostasis. The m.1382A>C polymorphism data suggests genetic variation in MOTS-c directly impacts metabolic disease risk — supporting the therapeutic rationale for exogenous MOTS-c supplementation in metabolically compromised individuals.
Citation
Filibeli BE, et al. Arch Endocrinol Metab. 2026;70(3):e260031. PMID: 41945630
See Also
- Parent compound: MOTS-c