PDF(Pubmed)
Abstract：
Oxytocin (Oxt) regulates thermogenesis, and altered thermoregulation results in Prader-Willi syndrome (PWS), Schaaf-Yang syndrome (SYS), and Autism spectrum disorder (ASD). PWS is a genetic disorder caused by the deletion of the paternal allele of 15q11-q13, the maternal uniparental disomy of chromosome 15, or defects in the imprinting center of chromosome 15. PWS is characterized by hyperphagia, obesity, low skeletal muscle tone, and autism spectrum disorder (ASD). Oxt also increases muscle tonicity and decreases proteolysis while PWS infants are hypotonic and require assisted feeding in early infancy. This evidence inspired us to merge the results of almost 20 years of studies and formulate a new hypothesis according to which the disruption of Oxt\'s mechanism of thermoregulation manifests in PWS, SYS, and ASD through thermosensory abnormalities and skeletal muscle tone. This review will integrate the current literature with new updates on PWS, SYS, and ASD and the recent discoveries on Oxt\'s regulation of thermogenesis to advance the knowledge on these diseases.
摘要：
催产素（Oxt）调节产热，体温调节改变导致Prader-Willi综合征（PWS），沙夫阳综合征（SYS），自闭症谱系障碍（ASD）。PWS是由15q11-q13的父系等位基因缺失，15号染色体的母系单亲二体性或15号染色体的印记中心缺陷引起的遗传性疾病。PWS的特点是饮食过多，肥胖，骨骼肌张力低，和自闭症谱系障碍（ASD）。Oxt还增加肌肉张力并减少蛋白水解，而PWS婴儿低张并在婴儿期早期需要辅助喂养。这一证据激励我们合并近20年的研究结果，并制定一个新的假设，根据该假设，Oxt的体温调节机制的破坏表现在PWS中。SYS,和ASD通过热感异常和骨骼肌张力。这篇评论将把当前的文献与PWS的新更新相结合，SYS,和ASD以及最近关于Oxt调节产热的发现，以提高对这些疾病的认识。
