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.
journal_name
Genes (Basel)journal_title
Genesauthors
Ramos-Molina B,Molina-Vega M,Fernández-García JC,Creemers JWdoi
10.3390/genes9060288subject
Has Abstractpub_date
2018-06-07 00:00:00issue
6issn
2073-4425pii
genes9060288journal_volume
9pub_type
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