Mendelian non-syndromic obesity

Stefano Paolacci; Giuseppe Pompucci; Barbara Paolini; Irene Del Ciondolo; Giacinto Abele Donato Miggiano; Barbara Aquilanti; Andrea Scaramuzza; Valeria Velluti; Giuseppina Matera; Lucilla Gagliardi; Matteo Bertelli

doi:10.23750/abm.v90i10-S.8766

Mendelian non-syndromic obesity

Authors

Stefano Paolacci MAGI'S LAB
Giuseppe Pompucci Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy
Barbara Paolini Department of Dietetics and Clinical Nutrition, Azienda Ospedaliera Universitaria Senese, Policlinico Santa Maria alle Scotte, Siena, Italy
Irene Del Ciondolo Department of Dietetics and Clinical Nutrition, Azienda Ospedaliera Universitaria Senese, Policlinico Santa Maria alle Scotte, Siena, Italy
Giacinto Abele Donato Miggiano UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS; Centro di Ricerche in Nutrizione Umana, Università Cattolica S. Cuore, Rome, Italy
Barbara Aquilanti UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS
Andrea Scaramuzza Department of Pediatrics, Ospedale Maggiore di Cremona, Cremona, Italy
Valeria Velluti UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS
Giuseppina Matera UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS
Lucilla Gagliardi UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS
Matteo Bertelli MAGI Euregio, Bolzano, Italy

DOI: https://doi.org/10.23750/abm.v90i10-S.8766

Keywords:

Mendelian obesity, leptin/melanocortin pathway, adipogenesis

Abstract

Obesity is highly heritable and arises from the interplay of many genes and environmental factors. It can be defined as the result of prolonged imbalance between calorie intake and energy utilization. About 5% of cases of non-syndromic obesity are monogenic (Mendelian obesity). The amount of adipose tissue in the body is mainly regulated by leptin, a hormone produced by adipocytes, and Mendelian obesity is mainly caused by mutations that disrupt the leptin/melanocortin pathway. In this article, we summarize the genes involved in genetic obesity and the test we use for genetic analysis.

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Published

30-09-2019

Issue

Vol. 90 No. 10-S (2019): Cardiovascular Diseases (Part A) | Infertility and Metabolic Syndromes (Part B) - Guest Editor: Matteo Bertelli, Stefano Paolacci

Section

REVIEWS

License

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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How to Cite

Paolacci S, Pompucci G, Paolini B, et al. Mendelian non-syndromic obesity. Acta Biomed. 2019;90(10-S):87-89. doi:10.23750/abm.v90i10-S.8766

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