Circulating Inhibitory Factor 1 levels in adult patients with Prader–Willi syndrome

Author:

Delvecchio Maurizio1ORCID,Grugni Graziano2,Mai Stefania3,Favoino Elvira4,Ingletto Annalisa5,Gnoni Antonio5

Affiliation:

1. Metabolic Disorders and Diabetes Unit, “Giovanni XXIII” Children’s Hospital, A.O.U. Policlinico di Bari , Bari , Italy

2. Division of Auxology , Istituto Auxologico Italiano, IRCCS , Verbania , Italy

3. Laboratory of Metabolic Research , Istituto Auxologico Italiano, S. Giuseppe Hospital, Research Institute , Verbania , Italy

4. Department of Biomedical Sciences and Human Oncology , University of Bari “Aldo Moro” , Bari , Italy

5. Department of Basic Medical Sciences, Neurosciences and Sense Organs , University of Bari “Aldo Moro” , Bari , Italy

Abstract

Abstract Objectives Prader–Willi syndrome (PWS) is a rare genetic syndrome characterized by hyperphagia and early development of morbid obesity. Cardiovascular disease (CVD) and metabolic syndrome (MetS) are major comorbidities in these patients leading to premature death. Inhibitory factor 1 (IF1) works as a regulatory protein, inhibiting the ATP hydrolase activity of mitochondrial ATP synthase and likely playing a role in lipid metabolism. We aimed to assay IF1 in adult patients with PWS evaluating any relationship with clinical, genetic and biochemical parameters. Methods We recruited 35 adult patients with genetically confirmed PWS. Results IF1 serum concentration displayed a normal distribution with an average value of 70.7 ± 22.6 pg/mL, a median value of 66.1 pg/mL. It was above the reference range only in one patient. All parameters were compared from both sides of IF1 median without displaying any significant differences. Patients with normal or low HDL-cholesterol did not present any difference as regards IF1 levels, which were not different between patients with and without MetS. Non-esterified fatty acids (NEFA) serum levels (r=0.623; p<0.001) showed a statistically significant correlation with IF1. Cholesterol and its fractions did not present any correlation with IF1. Conclusions In this study we do not confirm that HDL-cholesterol and IF1 are correlated, but we show that in adult PWS patients, NEFA are correlated with serum IF1. This protein could play a role to some extent in determining the complex metabolic alterations in PWS patients.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Molecular Biology,General Medicine,Endocrinology, Diabetes and Metabolism

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