Increased MAP-1 and lectin complement activation capacity in Klinefelter syndrome

Area of Science:

• Immunology
• Genetics
• Endocrinology

Background:

• Klinefelter syndrome (KS) is associated with immune dysregulation and metabolic issues.
• Individuals with KS have an increased risk of autoimmune, metabolic, and cardiovascular diseases.

Purpose of the Study:

• To investigate lectin pathway complement activation in men with KS.
• To explore relationships between complement activation, hypogonadism, body composition, and fibrinolysis in KS.

Main Methods:

• Cross-sectional study comparing 45 men with KS to 45 age-matched controls.
• ELISAs measured lectin pathway activation, complement factors (MAP-1), and C3dg.
• Body composition assessed by DXA; fibrinolysis by turbidometry.
• Skeletal muscle MASP1 gene splice variant MASP1-201 expression analyzed.

Main Results:

• Lectin pathway activation capacity was significantly higher in men with KS (106.2 ± 51.6%) versus controls (64.0 ± 30.1%).
• Elevated serum MAP-1 and increased MASP1-201 expression were observed in KS.
• Lectin pathway contributed to fibrin clot lysis variability in KS; no difference in C3dg levels.

Conclusions:

• Men with KS exhibit enhanced lectin complement pathway activation and increased MAP-1 and MASP1-201 expression.
• Altered immune function, specifically via the lectin pathway, may be a characteristic of KS.
• This immune alteration could contribute to the increased comorbidity burden in KS.