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J Clin Endocrinol Metab. 2015 Mar;100(3):850-9. doi: 10.1210/jc.2014-3127. Epub 2014 Dec 5.

Metabolic and adipose tissue signatures in adults with Prader-Willi syndrome: a model of extreme adiposity.

Author information

INSERM, U1166, Nutriomic team 6 (D.L., H.H., V.P., C.R., B.D., K.C., C.P.), Sorbonne Universities (D.L., H.H., V.P., C.R., B.D., K.C., C.P.), University Pierre et Marie Curie-Paris 6, Unité Mixte de Recherche en Santé Unité 1166, and Institute of Cardiometabolism and Nutrition (ICAN) (S.M., M.C., P.F., K.C., C.P.), Assistance Publique Hôpitaux de Paris, Department of Nutrition, and French Reference Centre for Prader-Willi Syndrome, Pitié-Salpêtrière Hospital, Paris, F-75013 France; Functional Unit of Inflammatory and Metabolic Biomarkers (J.-P.B.), Department of Biochemistry and Hormonology, Tenon Hospital, Assistance Publique des Hôpitaux de Paris, F-75970 Paris, France; Bioinformatics Platform (N.C.), Plateforme de Bioinformatique, SFR Necker, University Paris V, F-75015 Paris, France; and Department of Pediatric Nutrition and Gastroenterology (B.D.), Trousseau Hospital, Assistance Publique Hôpitaux de Paris, F-37044 Paris, France.



Prader-Willi syndrome (PWS), the most frequent syndrome of obesity, is a model of early fat mass (FM) development, but scarce data exist on adipose tissue characteristics.


The objective of the study was to compare metabolic, fat distribution, and transcriptomic signatures of sc adipose tissue (scAT) in PWS adults, with matched obese adults with primary obesities.


Hormonal and metabolic assessments, systemic inflammation, and gene expression in scAT were compared between PWS patients and obese controls (OCs). Each 42nd PWS patient was matched with one randomly paired control with primary obesity. Matching factors were age, gender, fat mass (percentage), and diabetic status.


Compared with OCs, the PWS group had a decreased percentage of trunk FM and a better metabolic profile with decreased insulin and homeostasis model assessment, an index of insulin-resistance, and increased concentrations of serum adiponectin and ghrelin. Adipocyte size relative to body fat was significantly higher in PWS vs OCs. scAT in PWS patients was characterized by a transcriptomic functional signature with enrichment of themes related to immunoinflammation, the extracellular matrix, and angiogenesis. A RT-PCR targeted study revealed that candidate genes encoding proinflammatory markers and remodeling molecules, CD68, CD3e, IL-1β, chemokine (C-C motif) ligand 5, collagen type 4-α, and lysyl oxidase, were down-regulated.


Matched for FM, PWS subjects have a better metabolic profile, a phenotype that could be linked to changes in scAT remodeling and promotion of adipocyte growth.

[Indexed for MEDLINE]

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