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

Maurizio Delvecchio; Graziano Grugni; Stefania Mai; Elvira Favoino; Annalisa Ingletto; Antonio Gnoni

doi:10.1515/hmbci-2020-0097

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Article

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

Maurizio Delvecchio , Graziano Grugni , Stefania Mai , Elvira Favoino , Annalisa Ingletto and Antonio Gnoni

Published/Copyright: March 5, 2021

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From the journal Hormone Molecular Biology and Clinical Investigation Volume 42 Issue 3

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 IF_1.

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 IF_1. This protein could play a role to some extent in determining the complex metabolic alterations in PWS patients.

Keywords: ATPase inhibitory protein; fatty acids; lipids metabolism; Prader–Willi syndrome

Corresponding author: Antonio Gnoni, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy, E-mail: antonio.gnoni@uniba.it

Maurizio Delvecchio and Graziano Grugni equally contributed to the paper.

Funding source: Azienda Ospedaliero-Universitaria Policlinico di Bari

Acknowledgments

The authors thank the patients and their families for joining the study.

Research funding: MD was recipient of grant by the “Independent research” fund of the Azienda Ospedaliero-Universitaria Policlinico di Bari to run this study.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: All patients and/or their parents or legal guardians gave their written informed consent to participate in the study.
Ethical approval: The Ethical Committee of the Istituto Auxologico Italiano, Italy, approved the study protocol (ref. no. 01C025; acronym: PWSIPMET), and the study complied with the Declaration of Helsinki regarding ethical conduct of research involving human subjects and/or animals.

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Received: 2020-12-29

Accepted: 2021-02-18

Published Online: 2021-03-05

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Articles in the same Issue

https://doi.org/10.1515/hmbci-2020-0097

Keywords for this article

ATPase inhibitory protein; fatty acids; lipids metabolism; Prader–Willi syndrome