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- Title
Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?
- Authors
Ramos-Molina, Bruno; Fernández-García, José C.; Molina-Vega, María; Creemers, John W.
- Abstract
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 (<italic>PCSK1</italic>) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that <italic>PCSK1</italic> 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 <italic>PCSK1</italic> deficiency could lead to hyperphagia but also the therapeutic interventions to treat obesity in both genetic disorders.
- Subjects
HYPERPHAGIA; OBESITY; PRADER-Willi syndrome; HYPOGONADISM; GENETIC disorders
- Publication
Genes, 2018, Vol 9, Issue 6, p288
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes9060288