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Abstract

Metabolic Parameters and Orexigenic/Anorexigenic Factors of Obesity in Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that arises from lack of expression of paternally inherited imprinted genes on chromosome 15 [1]. PWS is the most frequent cause of syndromic obesity occurring in 1 out of 10000–30 000 live births [2]. It is a neurodevelopmental disorder, characterized by neonatal hypotonia and failure to thrive, followed by a rapid weight gain between the ages of 1 and 6 years, leading most PWS subjects to develop morbid obesity and therefore premature mortality from its complications. The PWS phenotype includes multiple characteristics, most of which are central of origin (temperature dysregulation, high pain threshold, behavioral abnormalities, hypothalamic hypogonadism, growth hormone deficiency, central hypothyroidism, central adrenal insufficiency). Obesity, mostly due to an insatiable appetite, represents one of the most serious symptoms of PWS, leading to develop premature mortality from its complications. Therefore, we tried to investigate more deeply distinctive features of obesity and appetite regulation in PWS patients.


Author(s):

Elena Bogova, Natalya Volevodz, Valentina Peterkova and Ilin Alexander



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  • China National Knowledge Infrastructure (CNKI)
  • Geneva Foundation for Medical Education and Research
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