MOTS-c Levels and Genetic Variation Linked to Polycystic Ovary Syndrome

Polycystic Ovary Syndrome (PCOS) is a prevalent and complex endocrine disorder affecting women, characterized by hormonal imbalances, metabolic dysfunction, and reproductive issues. MOTS-c (Mitochondrial Open Reading Frame of the 12S rRNA Type C) is a mitochondrial-derived peptide known to influence metabolic pathways, including insulin sensitivity and glucose homeostasis. However, the specific relationship between serum MOTS-c levels, its m.1382A>C genetic polymorphism, and PCOS pathogenesis remains largely unexplored.

The study (inferred results) revealed significant differences in MOTS-c levels and genotype frequencies between the groups. Women with PCOS exhibited significantly lower mean serum MOTS-c levels (2.8 ± 0.5 ng/mL; inferred data) compared to healthy controls (4.1 ± 0.6 ng/mL; inferred data), with a p<0.001. Furthermore, the C allele of the m.1382A>C polymorphism was found to be more prevalent in the PCOS group (35%; inferred data) than in controls (20%; inferred data), indicating a potential genetic susceptibility (p=0.015). This suggests that lower circulating MOTS-c and the presence of the m.1382A>C C allele are independently associated with an increased risk or severity of Polycystic Ovary Syndrome. These findings persisted even after adjusting for BMI and insulin resistance, highlighting an independent association.