Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?
Bruno Ramos-MolinaMaría Molina-VegaJosé Carlos Fernández-GarcíaJohn W CreemersPublished in: Genes (2018)
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.
Keyphrases
- low density lipoprotein
- insulin resistance
- weight loss
- metabolic syndrome
- growth hormone
- high fat diet induced
- type diabetes
- replacement therapy
- weight gain
- genome wide
- copy number
- endothelial cells
- case report
- physical activity
- adipose tissue
- skeletal muscle
- intellectual disability
- smoking cessation
- duchenne muscular dystrophy