Center for Childhood Cancer, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA.
Department of Biology, College of Science, Mathematics, and Technology, Wenzhou-Kean University, Wenzhou, Zhejiang Province, China.
Epilepsia. 2024 Jun;65(6):1491-1511. doi: 10.1111/epi.17937. Epub 2024 Apr 30.
Genome-scale biological studies conducted in the post-genomic era have revealed that two-thirds of human genes do not encode proteins. Most functional non-coding RNA transcripts in humans are products of long non-coding RNA (lncRNA) genes, an abundant but still poorly understood class of human genes. As a result of their fundamental and multitasking regulatory roles, lncRNAs are associated with a wide range of human diseases, including neurological disorders. Approximately 40% of lncRNAs are specifically expressed in the brain, and many of them exhibit distinct spatiotemporal patterns of expression. Comparative genomics approaches have determined that 65%-75% of human lncRNA genes are primate-specific and hence can be posited as a contributing potential cause of the higher-order complexity of primates, including human, brains relative to those of other mammals. Although lncRNAs present important mechanistic examples of epileptogenic functions, the human/primate specificity of lncRNAs questions their relevance in rodent models. Here, we present an in-depth review that supports the contention that human lncRNAs are direct contributors to the etiology and pathogenesis of human epilepsy, as a means to accelerate the integration of lncRNAs into clinical practice as potential diagnostic biomarkers and therapeutic targets. Meta-analytically, the major finding of our review is the commonality of lncRNAs in epilepsy and cancer pathogenesis through mitogen-activated protein kinase (MAPK)-related pathways. In addition, neuroinflammation may be a relevant part of the common pathophysiology of cancer and epilepsy. LncRNAs affect neuroinflammation-related signaling pathways such as nuclear factor kappa- light- chain- enhancer of activated B cells (NF-κB), Notch, and phosphatidylinositol 3- kinase/ protein kinase B (Akt) (PI3K/AKT), with the NF-κB pathway being the most common. Besides the controversy over lncRNA research in non-primate models, whether neuroinflammation is triggered by injury and/or central nervous system (CNS) toxicity during epilepsy modeling in animals or is a direct consequence of epilepsy pathophysiology needs to be considered meticulously in future studies.
在基因组时代进行的全基因组生物学研究表明,人类基因中有三分之二不编码蛋白质。人类大多数功能性非编码 RNA 转录本是长非编码 RNA(lncRNA)基因的产物,lncRNA 是一类丰富但仍知之甚少的人类基因。由于其具有基础性和多功能调节作用,lncRNA 与广泛的人类疾病相关,包括神经疾病。大约 40%的 lncRNA 特异性表达于大脑中,其中许多 lncRNA 表现出独特的时空表达模式。比较基因组学方法确定,65%-75%的人类 lncRNA 基因是灵长类动物特异性的,因此可以推测它们是灵长类动物(包括人类)大脑相对于其他哺乳动物大脑的更高阶复杂性的潜在原因之一。尽管 lncRNA 提供了癫痫发生功能的重要机制实例,但 lncRNA 的人类/灵长类特异性问题使其在啮齿动物模型中的相关性受到质疑。在这里,我们进行了深入的综述,支持了人类 lncRNA 是人类癫痫发病机制和发病机制的直接原因的观点,以加速将 lncRNA 整合到临床实践中作为潜在的诊断生物标志物和治疗靶点。通过对我们综述的分析,主要发现是通过丝裂原活化蛋白激酶(MAPK)相关途径,lncRNA 在癫痫和癌症发病机制中具有共性。此外,神经炎症可能是癌症和癫痫共同病理生理学的一个相关部分。lncRNA 影响神经炎症相关信号通路,如核因子 kappa-轻链-增强子激活 B 细胞(NF-κB)、Notch 和磷酸肌醇 3-激酶/蛋白激酶 B(Akt)(PI3K/AKT),其中 NF-κB 途径最为常见。除了非灵长类动物模型中 lncRNA 研究的争议外,在动物癫痫模型中,神经炎症是由损伤和/或中枢神经系统(CNS)毒性触发的,还是癫痫发病机制的直接后果,这需要在未来的研究中仔细考虑。