Are serum MOTS-c levels and MOTS-c m.1382A>C polymorphism related to polycystic ovary syndrome?

Abstract 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.