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Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced
Sigrun Hope1,2,3, Terje Nærland4,5, Svein Olav Kolset6
1K.G. Jebsen Centre for Neurodevelopmental disorders, Institute of Clinical Medicine, University of Oslo, Oslo, Norway. sigrun.hope@ous-hf.no.
Insights
Prader-Willi syndrome (PWS) involves increased cardiovascular disease (CVD) risk due to inflammation. This study found elevated MMP-9 and MPO, and reduced MIF levels in PWS patients, independent of CVD risk factors.
Area of Science:
- Immunology
- Genetics
- Cardiovascular Medicine
Background:
- Prader-Willi syndrome (PWS) is a genetic disorder associated with a high risk of obesity and cardiovascular disease (CVD).
- Inflammation is increasingly recognized as a key factor in the development of PWS-related complications.
- Investigating immune markers in PWS can elucidate underlying pathogenetic mechanisms of CVD.
Purpose of the Study:
- To investigate cardiovascular disease (CVD) related immune markers in individuals with Prader-Willi syndrome (PWS).
- To identify specific inflammatory pathways implicated in the pathogenesis of CVD in PWS.
- To analyze the association between immune markers and clinical CVD risk factors in PWS.
Main Methods:
- A cross-sectional study comparing 22 PWS participants with 22 healthy controls (HC).
- Measurement of 21 inflammatory markers associated with CVD-related immune pathways.
- Statistical analysis of marker levels and their correlation with clinical CVD risk factors, adjusting for age and sex.
Main Results:
- Significantly elevated serum levels of matrix metalloproteinase 9 (MMP-9) and myeloperoxidase (MPO) in PWS compared to HC (p < 1x10⁻⁵).
- Significantly reduced serum levels of macrophage inhibitory factor (MIF) in PWS compared to HC (p < 1x10⁻³).
- These immune marker differences persisted after adjusting for clinical CVD risk factors such as BMI, HbA1c, and cholesterol.
Conclusions:
- Individuals with PWS exhibit distinct immune profiles characterized by elevated MMP-9 and MPO and reduced MIF.
- This immune signature suggests enhanced monocyte/neutrophil activation, impaired macrophage inhibition, and increased extracellular matrix remodeling in PWS.
- Further research into these immune pathways is warranted to develop targeted therapies for CVD in PWS.
Background:
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental syndrome with highly increased risk of obesity and cardiovascular disease (CVD). Recent evidence suggests that inflammation is implicated in the pathogenesis. Here we investigated CVD related immune markers to shed light on pathogenetic mechanisms.
Methods:
We performed a cross-sectional study with 22 participants with PWS and 22 healthy controls (HC), and compared levels of 21 inflammatory markers that reflect activity in different aspects of CVD related immune pathways and analyzed their association with clinical CVD risk factors.
Results:
Serum levels of matrix metalloproteinase 9 (MMP-9) was (median (range)) 121 (182) ng/ml in PWS versus 44 (51) ng/ml in HC, p = 1 × 10-9), myeloperoxidase (MPO) was 183 (696) ng/ml versus 65 (180) ng/ml, p = 1 × 10-5) and macrophage inhibitory factor (MIF) was 46 (150) ng/ml versus 121 (163) ng/ml (p = 1 × 10-3), after adjusting for age and sex. Also other markers tended to be elevated (OPG, sIL2RA, CHI3L1, VEGF) but not significantly after Bonferroni correction (p > 0.002). As expected PWS had higher body mass index, waist circumference, leptin, C-reactive protein, glycosylated hemoglobin (HbA1c), VAI and cholesterol, but MMP-9, MPO and MIF remained significantly different in PWS after adjustment for these clinical CVD risk factors.
Conclusion:
PWS had elevated levels of MMP-9 and MPO and of reduced levels of MIF, which were not secondary to comorbid CVD risk factors. This immune profile suggests enhanced monocyte/neutrophil activation, impaired macrophage inhibition with enhanced extracellular matrix remodeling. These findings warrant further studies targeting these immune pathways in PWS.
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