| Autor: |
Petersson M; Department of Endocrinology, Karolinska University Hospital, 171 76 Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden., Höybye C; Department of Endocrinology, Karolinska University Hospital, 171 76 Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden. |
| Jazyk: |
angličtina |
| Zdroj: |
Current issues in molecular biology [Curr Issues Mol Biol] 2024 Aug 13; Vol. 46 (8), pp. 8767-8779. Date of Electronic Publication: 2024 Aug 13. |
| DOI: |
10.3390/cimb46080518 |
| Abstrakt: |
Prader-Willi Syndrome (PWS) is a rare genetic disorder typically characterized by decreased social interaction, hyperphagia, poor behavioral control and temper tantrums, together with a high risk of morbid obesity unless food intake is controlled. The genetic defects that cause PWS include paternal 15q deletion (estimated in 60% of cases), chromosome 15 maternal uniparental disomy (UPD) (estimated in 35% of cases) and imprinting defects and translocations. Several studies indicate an oxytocin deficiency in PWS. Oxytocin is a hypothalamic nonapeptide with receptors located in the brain and in various other tissues in the body. It acts as a neuropeptide in several brain areas of great importance for behavioral and metabolic effects, as well as a neurohypophyseal hormone released into the circulation. Oxytocin in both rats and humans has strong and long-lasting behavioral and metabolic effects. Thus, an oxytocin deficiency might be involved in several of the behavioral and metabolic symptoms characterizing PWS. Treatment with oxytocin has, in some studies, shown improvement in psycho-social behavior and hyperphagia in individuals with PWS. This review focus on the behavioral and metabolic effects of oxytocin, the symptoms of a potential oxytocin deficiency in PWS and the effects of oxytocin treatment. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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