Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Prader-Willi syndrome, PCSK1 deficiency, obesity, hyperphagia, hypothalamus, PROPROTEIN CONVERTASE-1, ENDOCRINOPATHIES, ADOLESCENTS, HOMEOSTASIS, DISRUPTION, EXPRESSION, MUTATIONS, VARIANTS, WEIGHT, SYSTEM, Prader–Willi syndrome, PROHORMONE CONVERTASE-1, PEDIATRIC COHORT, HUMANS, MICE, C14/16/070#53765168, 0604 Genetics, 3105 Genetics

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.