SEARCHCROSS-SECTIONALcardiology, endocrinology

cross-sectional·cardiology, endocrinology, immunology, pediatrics, epidemiology·PMC10332053

Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor

Orphanet Journal of Rare Diseases · 6 authors, 11 centres

AI SUMMARY

FIDELITY 100%

POPULATION22 participants with Prader-Willi syndrome and 22 healthy controls

INTERVENTION

COMPARISONHealthy controls (HC)

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

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TL;DR

This cross-sectional study compared serum inflammatory markers in 22 people with Prader-Willi syndrome (PWS) to 22 healthy controls. The central result was that individuals with PWS had significantly elevated levels of matrix metalloproteinase-9 (MMP-9) and myeloperoxidase (MPO), and reduced levels of macrophage inhibitory factor (MIF), differences that persisted after adjusting for cardiovascular risk factors.

Full summary

1,152 CHARS

The study conducted a cross-sectional analysis of serum levels for 21 cardiovascular-disease-related inflammatory markers in 22 individuals with Prader-Willi syndrome (PWS) compared to 22 healthy controls. The analysis adjusted for age and sex. The central result was a significant elevation in median serum levels of matrix metalloproteinase-9 (MMP-9) and myeloperoxidase (MPO), and a significant reduction in macrophage inhibitory factor (MIF) in the PWS group. These differences remained statistically significant after adjustment for clinical cardiovascular risk factors including body mass index, leptin, C-reactive protein, and cholesterol. While other markers (OPG, sIL2RA, CHI3L1, VEGF) showed a trend toward elevation, these were not significant after Bonferroni correction. The study limitations include a small sample size, which increases the risk of Type II errors. The findings suggest that a specific inflammatory profile characterized by enhanced monocyte/neutrophil activation and impaired macrophage inhibition exists in PWS independent of obesity, which may contribute to the increased cardiovascular disease risk in this population.

PICO

PPOPULATION

22 participants with Prader-Willi syndrome and 22 healthy controls

OOUTCOME

Serum levels of 21 inflammatory markers (primary: MMP-9, MPO, MIF)

STUDY TYPE

cross-sectional

SPECIALTY

cardiology

SUMMARISED BY

AI pipeline

FIDELITY CHECK

100% · A

ORIGINAL PAPER

PMC10332053

Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor

Orphanet Journal of Rare Diseases

READ THE FULL PAPER

ABSTRACT

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.

CITATION EXPORT

Sigrun Hope, Terje Nærland, Svein Olav Kolset et al.. Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor. Orphanet Journal of Rare Diseases. (2023). https://doi.org/10.1186/s13023-023-02730-5

AUTHORS

6 · 11 CENTRES

Sigrun Hope, Terje Nærland, Svein Olav Kolset, Thor Ueland, Ole A. Andreassen, Marianne Nordstrøm

1grid.5510.10000 0004 1936 8921K.G. Jebsen Centre for Neurodevelopmental disorders, Institute of Clinical Medicine, University of Oslo, Oslo, Norway
2grid.55325.340000 0004 0389 8485Department of Neurohabilitation, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway
3grid.55325.340000 0004 0389 8485Nevsom, Department of Rare Diagnoses and Disabilities, Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway
4grid.5510.10000 0004 1936 8921Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway
5grid.55325.340000 0004 0389 8485Research Institute of Internal Medicine, Oslo University Hospital, Oslo, Norway
6grid.5510.10000 0004 1936 8921Institute of Clinical Medicine, University of Oslo, Rikshospitalet, Oslo, Norway
7grid.10919.300000000122595234K.G. Jebsen, TREC, University of Tromsø, Tromsø, Norway
8grid.5510.10000 0004 1936 8921NORMENT: Norwegian Centre for Mental Disorders Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway
9grid.55325.340000 0004 0389 8485Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway
10Frambu Resource Centre for Rare Disorders, Siggerud, Norway
11grid.55325.340000 0004 0389 8485Unit for Rare Neuromuscular Disorders, Movement, Muscle and Neurodegeneration, Department of Neurology, Oslo University Hospital, Oslo, Norway