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

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 (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.

SUBMITTER: Ramos-Molina B 

PROVIDER: S-EPMC6027271 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Hyperphagia and Obesity in Prader⁻Willi Syndrome: <i>PCSK1</i> Deficiency and Beyond?

Ramos-Molina Bruno B   Molina-Vega María M   Fernández-García José C JC   Creemers John W JW  

Genes 20180607 6

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 (<i>PCSK1</i>) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that <i>PCSK1</i> is downregulated in a model of human PWS suggests that overlapping  ...[more]

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