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催产素对产热的调节可能是与普拉德-威利综合征的关联所在。

Oxytocin's Regulation of Thermogenesis May Be the Link to Prader-Willi Syndrome.

作者信息

Camerino Claudia

机构信息

Department of Biomedical Sciences and Human Oncology, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, P.za G. Cesare 11, 70100 Bari, Italy.

Department of Physiology and Pharmacology "V. Erspamer", Sapienza University of Rome, P.le Aldo Moro 5, 00185 Rome, Italy.

出版信息

Curr Issues Mol Biol. 2023 Jun 6;45(6):4923-4935. doi: 10.3390/cimb45060313.

Abstract

Prader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder that is caused by either the deletion of the paternal allele of 15q11-q13, maternal uniparental disomy of chromosome 15 or defects in the chromosome 15 imprinting centre and is characterized by cognitive impairment, hyperphagia and low metabolic rate with significant risk of obesity, as well as a variety of other maladaptive behaviours and autistic spectrum disorder (ASD). Many of the features seen in PWS are thought to be due to hypothalamic dysfunction resulting in hormonal abnormalities and impaired social functioning. The preponderance of evidence indicates that the Oxytocin system is dysregulated in PWS individuals and that this neuropeptide pathways may provide promising targets for therapeutic intervention although the process by which this dysregulation occurs in PWS awaits mechanistic investigation. PWS individuals present abnormalities in thermoregulation an impaired detection for temperature change and altered perception of pain indicating an altered autonomic nervous system. Recent studies indicate that Oxytocin is involved in thermoregulation and pain perception. This review will describe the update on PWS and the recent discoveries on Oxytocin regulation of thermogenesis together with the potential link between Oxytocin regulation of thermogenesis and PWS to create a new groundwork for the treatment of this condition.

摘要

普拉德-威利综合征(PWS)是一种遗传性神经发育障碍,由15号染色体长臂1区1带至1区3带(15q11-q13)父源等位基因缺失、母源单亲二倍体或15号染色体印记中心缺陷引起,其特征为认知障碍、食欲亢进、代谢率低且肥胖风险高,以及多种其他适应不良行为和自闭症谱系障碍(ASD)。PWS中出现的许多特征被认为是由于下丘脑功能障碍导致激素异常和社会功能受损。大量证据表明,PWS个体的催产素系统失调,尽管PWS中这种失调发生的过程有待进行机制研究,但这种神经肽途径可能为治疗干预提供有前景的靶点。PWS个体存在体温调节异常、对温度变化的检测受损以及疼痛感知改变,表明自主神经系统发生改变。最近的研究表明,催产素参与体温调节和疼痛感知。本综述将描述PWS的最新情况以及催产素调节产热的最新发现,以及催产素调节产热与PWS之间的潜在联系,为治疗这种疾病奠定新的基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd71/10297258/9d9afc8be49f/cimb-45-00313-g001.jpg

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