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Metabolomic profiling of Prader-Willi syndrome

by informer
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Prader-Willi syndrome (PWS) is a rare disease, which shows a peculiar clinical phenotype, including obesity, which is different from essential obesity (EOB). Metabolomics might represent a valuable tool to reveal the biochemical mechanisms/pathways underlying clinical differences between PWS and EOB. The aim of the present (case-control, retrospective) study is to determine the metabolomic profile that characterizes PWS compared to EOB.

A validated liquid chromatography-tandem mass spectrometry (LC-MS/MS) targeted metabolomic approach is used  to measure a total of 188 endogenous metabolites in plasma.

Body composition in PWS is different when compared to EOB, with increased fat mass and decreased fat-free mass. Glycemia and HDL cholesterol are higher in patients with PWS than in those with EOB, while insulinemia is lower, as well as heart rate. Resting energy expenditure is lower in the group with PWS than in the one with EOB.

PWS exhibits a specific metabolomic profile when compared to EOB, suggesting a different regulation of some biochemical pathways, fundamentally related to lipid metabolism. Read the full article here.

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