Petersson Maria, Höybye Charlotte
Department of Endocrinology, Karolinska University Hospital, 171 76 Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.
Curr Issues Mol Biol. 2024 Aug 13;46(8):8767-8779. doi: 10.3390/cimb46080518.
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.
普拉德-威利综合征（PWS）是一种罕见的遗传性疾病，其典型特征包括社交互动减少、食欲亢进、行为控制能力差和脾气暴躁，并且除非控制食物摄入量，否则有患病态肥胖症的高风险。导致PWS的基因缺陷包括父源15号染色体缺失（约占病例的60%）、15号染色体母源单亲二体性（UPD）（约占病例的35%）以及印记缺陷和易位。多项研究表明PWS患者存在催产素缺乏。催产素是一种下丘脑九肽，其受体位于大脑和身体的其他各种组织中。它在对行为和代谢效应非常重要的几个脑区中作为神经肽起作用，同时也是一种释放到循环系统中的神经垂体激素。大鼠和人类体内的催产素都具有强烈且持久的行为和代谢效应。因此，催产素缺乏可能与PWS的几种行为和代谢症状有关。在一些研究中，催产素治疗已显示出可改善PWS患者的心理社会行为和食欲亢进。本综述聚焦于催产素的行为和代谢效应、PWS中潜在催产素缺乏的症状以及催产素治疗的效果。
