Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome
نویسندگان
چکیده
منابع مشابه
Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome
Profound hyperphagia is a major disabling feature of Prader-Willi syndrome (PWS). Characterization of the mechanisms that underlie PWS-associated hyperphagia has been slowed by the paucity of animal models with increased food intake or obesity. Mice with a microdeletion encompassing the Snord116 cluster of noncoding RNAs encoded within the Prader-Willi minimal deletion critical region have prev...
متن کاملAssessment of hyperphagia in Prader-Willi syndrome.
OBJECTIVE Prader-Willi syndrome (PWS), the leading known genetic cause of obesity, is characterized by intellectual disabilities, maladaptive and compulsive behaviors, and hyperphagia. Although complications of obesity resulting from hyperphagia are the leading cause of death in PWS, quantifying this drive for food has long been an unmet research need. This study provides factor-analytic and wi...
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STUDY OBJECTIVES Sleep-wake disturbances are often reported in Prader-Willi syndrome (PWS), a rare neurodevelopmental syndrome that is associated with paternally-expressed genomic imprinting defects within the human chromosome region 15q11-13. One of the candidate genes, prevalently expressed in the brain, is the small nucleolar ribonucleic acid-116 (SNORD116). Here we conducted a translational...
متن کاملPrader-Willi syndrome and hyperphagia: a challenge to investigate.
Prader-Willi syndrome (PWS) is a genetic disease caused by the loss of expression of genes of paternal origin in the region 15q11--q13 of chromosome 15. The main characteristics of the syndrome include neonatal hypotonia, feeding problems in infancy, characteristic facies, intellectual disability, behavioral changes, GH deficiency, hypogonadism, and hyperphagia. Hyperphagia leads to the develop...
متن کاملDental Management of Patients with Prader Willi Syndrome
Prader–Willi syndrome (PWS) is a genetic disorder which occurs with a frequency of about one in 10,000–30,000 live newborns. Both males and females, and all races are equally affected. PWS is a complex disorder with multiple disabilities, and the main defect is found in the hypothalamus. Child with PWS at the age between 2 and 3 years becomes constantly hungry and if the diet is not controlled,...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2018
ISSN: 0021-9738,1558-8238
DOI: 10.1172/jci97007