Valentino Mariaelena, Dejana Elisabetta, Malinverno Matteo
The FIRC Institute of Molecular Oncology (IFOM), Milan, 16 20139, Italy.
Department of Oncology and Haemato-Oncology, University of Milan, Milan, 7 20122, Italy.
Genes Dis. 2020 Dec 30;8(6):798-813. doi: 10.1016/j.gendis.2020.12.008. eCollection 2021 Nov.
The programmed cell death 10 () gene was originally identified as an apoptosis-related gene, although it is now usually known as , as the third causative gene of cerebral cavernous malformation (CCM). CCM is a neurovascular disease that is characterized by vascular malformations and is associated with headaches, seizures, focal neurological deficits, and cerebral hemorrhage. The PDCD10/CCM3 protein has multiple subcellular localizations and interacts with several multi-protein complexes and signaling pathways. Thus governs many cellular functions, which include cell-to-cell junctions and cytoskeleton organization, cell proliferation and apoptosis, and exocytosis and angiogenesis. Given its central role in the maintenance of homeostasis of the cell, dysregulation of can result in a wide range of altered cell functions. This can lead to severe diseases, including CCM, cognitive disability, and several types of cancers. Here, we review the multifaceted roles of in physiology and pathology, with a focus on its functions beyond CCM.
程序性细胞死亡10()基因最初被鉴定为与凋亡相关的基因,尽管现在它通常被称为,作为脑海绵状血管畸形(CCM)的第三个致病基因。CCM是一种神经血管疾病,其特征是血管畸形,并与头痛、癫痫、局灶性神经功能缺损和脑出血有关。PDCD10/CCM3蛋白具有多个亚细胞定位,并与几种多蛋白复合物和信号通路相互作用。因此,它控制着许多细胞功能,包括细胞间连接和细胞骨架组织、细胞增殖和凋亡,以及胞吐作用和血管生成。鉴于其在维持细胞稳态中的核心作用,的失调会导致广泛的细胞功能改变。这可能导致严重疾病,包括CCM、认知障碍和几种类型的癌症。在这里,我们综述了在生理和病理方面的多方面作用,重点是其在CCM之外的功能。