Department of Dermatology, The Saarland University Hospital, Homburg, Germany.
Adv Exp Med Biol. 2020;1218:159-187. doi: 10.1007/978-3-030-34436-8_9.
The evolutionary highly conserved Notch pathway governs many cellular core processes including cell fate decisions. Although it is characterized by a simple molecular design, Notch signaling, which first developed in metazoans, represents one of the most important pathways that govern embryonic development. Consequently, a broad variety of independent inherited diseases linked to defective Notch signaling has now been identified, including Alagille, Adams-Oliver, and Hajdu-Cheney syndromes, CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy), early-onset arteriopathy with cavitating leukodystrophy, lateral meningocele syndrome, and infantile myofibromatosis. In this review, we give a brief overview on molecular pathology and clinical findings in congenital diseases linked to the Notch pathway. Moreover, we discuss future developments in basic science and clinical practice that may emerge from recent progress in our understanding of the role of Notch in health and disease.
进化上高度保守的 Notch 通路调控许多细胞核心过程，包括细胞命运决定。尽管 Notch 信号通路具有简单的分子设计，但它首先在后生动物中出现，是调控胚胎发育的最重要途径之一。因此，现在已经确定了许多与 Notch 信号缺陷相关的独立遗传性疾病，包括 Alagille、Adams-Oliver 和 Hajdu-Cheney 综合征、CADASIL（伴有皮质下梗死和白质脑病的常染色体显性脑动脉病）、早发型动脉病伴空洞性白质营养不良、外侧脑膜膨出综合征和婴儿纤维瘤病。在这篇综述中，我们简要概述了与 Notch 通路相关的先天性疾病的分子病理学和临床发现。此外，我们讨论了基础科学和临床实践的未来发展，这些发展可能源于我们对 Notch 在健康和疾病中的作用的理解的最新进展。
