Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?
作者： Bruno Ramos-Molina , María Molina-Vega , José Fernández-García , John Creemers
DOI: 10.3390/GENES9060288
关键词: PCSK1 Deficiency 、 Bioinformatics 、 Kexin 、 Proprotein convertase 、 Congenital disorder 、 Genetic disorder 、 Obesity 、 Medicine
摘要: Prader–Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both disorders show clear dissimilarities as well. The recent observation that PCSK1 downregulated in model of human PWS suggests overlapping pathways are affected. In this review we will not only discuss the mechanisms which deficiency could lead to hyperphagia also therapeutic interventions treat obesity disorders.
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