Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?

Prader–Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, a rare recessive congenital disorder, partially overlaps phe...

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Autores principales: Ramos-Molina, Bruno, Molina-Vega, María, Fernández-García, José C., Creemers, John W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027271/
https://www.ncbi.nlm.nih.gov/pubmed/29880780
http://dx.doi.org/10.3390/genes9060288
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author Ramos-Molina, Bruno
Molina-Vega, María
Fernández-García, José C.
Creemers, John W.
author_facet Ramos-Molina, Bruno
Molina-Vega, María
Fernández-García, José C.
Creemers, John W.
author_sort Ramos-Molina, Bruno
collection PubMed
description Prader–Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this review we will not only discuss the mechanisms by which PWS and PCSK1 deficiency could lead to hyperphagia but also the therapeutic interventions to treat obesity in both genetic disorders.
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spelling pubmed-60272712018-07-13 Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond? Ramos-Molina, Bruno Molina-Vega, María Fernández-García, José C. Creemers, John W. Genes (Basel) Review Prader–Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this review we will not only discuss the mechanisms by which PWS and PCSK1 deficiency could lead to hyperphagia but also the therapeutic interventions to treat obesity in both genetic disorders. MDPI 2018-06-07 /pmc/articles/PMC6027271/ /pubmed/29880780 http://dx.doi.org/10.3390/genes9060288 Text en © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Ramos-Molina, Bruno
Molina-Vega, María
Fernández-García, José C.
Creemers, John W.
Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?
title Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?
title_full Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?
title_fullStr Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?
title_full_unstemmed Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?
title_short Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?
title_sort hyperphagia and obesity in prader–willi syndrome: pcsk1 deficiency and beyond?
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027271/
https://www.ncbi.nlm.nih.gov/pubmed/29880780
http://dx.doi.org/10.3390/genes9060288
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