Characterization of Serum Proteome in Subjects Suffering From Prader Willi Syndrome With Different Degrees of Liver Steatosis

Methods Study design The study includes two phases, a first exploratory phase known as "discovery" in which 30 subjects with Prader-Willi Syndrome (PWS) will be analyzed with SOMAscan technology to perform a serum proteomic profile. Hepatic steatosis will be determined by the use of abdominal ultrasound in PWS subjects by establishing the control group (steatosis grade 0/1) and the steatotic one (steatosis grade 2/3). Subsequently, at least two candidate biomarkers will be selected and validated by ELISA in the 30 samples used in the discovery phase (samples already present in our serum bank) and a further 22 samples from PWS patients specifically enrolled for this study.

Patients:

30 subjects already recruited in our previous MIRNOMAPWS project (RC-2018) with genetic diagnosis of PWS, of both sexes and aged between 18 and 45 years in baseline conditions, will be taken into consideration.

For each patient, the following variables will be collected from the medical records:

• anthropometric parameters (height, weight, BMI, waist circumference);
• body composition (lean mass, fat mass), using the impedance measurement technique (BIA);
• levels of steatosis measured with ultrasound according to standard criteria
• basic metabolism, using indirect calorimetry;
• biochemical parameters determining the metabolic syndrome (HDL cholesterol, triglycerides, blood sugar);
• blood pressure;
• concomitant hormonal therapies (growth hormone therapy, sex steroids, and/or l-thyroxine).