Are serum MOTS-c levels and MOTS-c m.1382A>C polymorphism related to polycystic ovary syndrome?
This observational case-control study investigated whether serum MOTS-c levels and the mitochondrial m.1382A>C gene polymorphism are associated with polycystic ovary syndrome (PCOS) in adolescents. A total of 246 participants aged 12–18 were enrolled: 121 diagnosed with PCOS (based on irregular menstrual cycles and clinical/biochemical hyperandrogenism) and 125 healthy controls with regular menstruation. Serum MOTS-c levels were measured by ELISA, and the m.1382A>C polymorphism was assessed by gene sequencing. The study found that mean serum MOTS-c levels were slightly higher in the PCOS group compared to controls, but this difference did not reach statistical significance (p = 0.059). No significant associations were observed between MOTS-c levels and anthropometric or metabolic parameters within the PCOS group. Notably, all participants carried the wild-type (A/A) genotype for the m.1382A>C polymorphism, making genetic association analysis impossible in this cohort. The authors concluded that MOTS-c may play only a minor role in PCOS pathophysiology. Limitations include the modest sample size, the adolescent-only population, the absence of polymorphism variability, and the cross-sectional design precluding causal inference.
Why this grade: This is a cross-sectional case-control study in humans with a moderate sample size (n=246), but its findings are limited by lack of genetic variability, borderline non-significant primary outcome, and a design that cannot establish causality.
Objective MOTS-c is a mitochondria-derived peptide associated with reduced insulin resistance and obesity. The m.1382A>C polymorphism of the MOTS-c gene is linked to an increased risk of type 2 diabetes in men. However, no studies have explored the relationship between this polymorphism and MOTS-c levels in adolescents with polycystic ovary syndrome (PCOS). This study aimed to investigate the differences in MOTS-c levels between adolescents diagnosed with PCOS and those without PCOS, as well as the associations with metabolic parameters. The association between the MOTS-c gene polymorphism and serum MOTS-c levels in adolescents with PCOS was also evaluated. Subjects and methods Adolescents aged 12-18 diagnosed with PCOS were recruited based on irregular menstrual cycles and clinical/biochemical hyperandrogenism, excluding other conditions. The control group consisted of adolescents with regular menstruation. Serum MOTS-c levels were measured using ELISA, and the m.1382A>C polymorphism was analyzed by sequencing. Results The study included 121 adolescents with PCOS and 125 healthy controls. The mean serum MOTS-c levels in the PCOS group were higher than in the control group; however, this difference did not reach statistical significance (p = 0.059). There was no significant association between MOTS-c levels and anthropometric or metabolic parameters within the PCOS group (p > 0.05). All participants had the wild-type (A/A) genotype for the m.1382A>C polymorphism. Conclusion Results indicate that the MOTS-c gene (m.1382A>C) polymorphism shows no significant association with PCOS, and serum MOTS-c levels are comparable between individuals with PCOS and healthy controls, suggesting that MOTS-c may have a minor involvement in the pathophysiology of PCOS.
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