Department of Pediatrics, Ajou University School of Medicine, Suwon 164999, Korea.
Int J Mol Sci. 2022 Mar 19;23(6):3332. doi: 10.3390/ijms23063332.
The Notch signaling pathway is highly conserved during evolution. It has been well documented that Notch signaling regulates cell proliferation, migration, and death in the nervous, cardiac, and endocrine systems. The Notch pathway is relatively simple, but its activity is regulated by numerous complex mechanisms. Ligands bind to Notch receptors, inducing their activation and cleavage. Various post-translational processes regulate Notch signaling by affecting the synthesis, secretion, activation, and degradation of Notch pathway-related proteins. Through such post-translational regulatory processes, Notch signaling has versatile effects in many tissues, including the hypothalamus. Recently, several studies have reported that mutations in genes related to the Notch signaling pathway were found in patients with central precocious puberty (CPP). CPP is characterized by the early activation of the hypothalamus-pituitary-gonadal (HPG) axis. Although genetic factors play an important role in CPP development, few associated genetic variants have been identified. Aberrant Notch signaling may be associated with abnormal pubertal development. In this review, we discuss the current knowledge about the role of the Notch signaling pathway in puberty and consider the potential mechanisms underlying CPP.
Notch 信号通路在进化过程中高度保守。已有充分的文献记载表明, Notch 信号通路调节神经系统、心脏和内分泌系统中的细胞增殖、迁移和死亡。 Notch 通路相对简单,但它的活性受到许多复杂机制的调节。配体与 Notch 受体结合,诱导其激活和裂解。各种翻译后修饰过程通过影响 Notch 通路相关蛋白的合成、分泌、激活和降解来调节 Notch 信号通路。通过这种翻译后调控过程, Notch 信号通路在包括下丘脑在内的许多组织中具有多种效应。最近,有几项研究报告称,在中枢性性早熟 (CPP) 患者中发现了与 Notch 信号通路相关的基因突变。 CPP 的特征是下丘脑-垂体-性腺 (HPG) 轴的早期激活。尽管遗传因素在 CPP 的发生发展中起重要作用,但很少有相关的遗传变异被鉴定出来。异常的 Notch 信号可能与青春期发育异常有关。在这篇综述中,我们讨论了 Notch 信号通路在青春期中的作用的现有知识,并考虑了 CPP 的潜在机制。