Research Publications Archive - Foundation for Prader-Willi Research | Endocrinology/Growth Hormone

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome

BACKGROUND: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual...

Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes

Global neurodevelopmental delay is a prominent characteristic of individuals with Prader-Willi syndrome (PWS). The neuromolecular bases for these delays are unknown. We identified neuroanatomical changes in the brains of mice deficient for a gene in the minimal critical deletion region for PWS...

The activity of the serotonin receptor 2C is regulated by alternative splicing

The central nervous system-specific serotonin receptor 2C (5HT2C) controls key physiological functions, such as food intake, anxiety, and motoneuron activity. Its deregulation is involved in depression, suicidal behavior, and spasticity, making it the target for antipsychotic drugs, appetite...

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

Abstract Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum...

Determination of the half-life of circulating leptin in the mouse

BACKGROUND: The adipokine hormone, leptin, is a major component of body weight homeostasis. Numerous studies have been performed administering recombinant mouse leptin as an experimental reagent; however, the half-life of circulating leptin following exogenous administration of recombinant mouse...

High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome

BACKGROUND: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with different nutritional phases from suckling deficit with failure to thrive to early onset of obesity. Hyperghrelinemia has been described in PWS long before the development of obesity. Ghrelin is found in both...

Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade

STUDY QUESTION: At what age does the type of hypogonadism, namely hypothalamic or primary gonadal defect, become established in men and women with Prader-Willi syndrome (PWS)? SUMMARY ANSWER: The type of hypogonadism becomes established only in late adolescence and early adulthood. WHAT IS KNOWN...

Macronutrient regulation of Ghrelin and Peptide YY in Pediatric Obesity and Prader Willi Syndrome (PWS)

Abstract BACKGROUND: The roles of macronutrients and GH in the regulation of food intake in pediatric obesity and PWS are poorly understood. OBJECTIVE: We compared effects of high carbohydrate (HC) and high fat (HF) meals and GH therapy on ghrelin, insulin, PYY, and insulin sensitivity in children...

Metabolic profiling in Prader-Willi syndrome and non-syndromic obesity: sex differences and the role of growth hormone

OBJECTIVES: To identify metabolic factors controlling appetite and insulin sensitivity in PWS and assess effects of GH treatment.

Chemical identity of hypothalamic neurons engaged by leptin in reproductive control

The adipocyte-derived hormone leptin plays a critical role as a metabolic cue for the reproductive system. Conditions of low leptin levels observed in negative energy balance and loss-of-function mutations of leptin or leptin receptor genes are characterized by decreased fertility. In recent years,...