Hydrocephalus in Connection to Genetic Mutation in Cranial Neural Crest Cells.

IF 2.4 3区 医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE
Samar Jalali, Ali Mohazeb, Nika Rezaeikalantari, Yang Fu, Yasamin Mohazeb, Guanjun Jiao, Xinli Zhang
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Abstract

Hydrocephalus, a pathological condition due to the accumulation of cerebrospinal fluid (CSF) in the brain's ventricles, has been recognised as a relatively common brain abnormality in newborns and young adults with or without craniofacial anomaly. It can cause physical, behavioural and cognitive symptoms and, in severe cases, may result in lethality. Hydrocephalus can result from various underlying conditions, and its multifactorial nature makes pinpointing a single pathophysiological aetiology challenging. Notably, the relatively high prevalence of hydrocephalus (up to 100%) in the cranial neural crest cells (CNCCs) conditional knockout mouse models of various genes using Wnt1-Cre has been reported, given the extremely low (0.01% to 0.86%) spontaneous occurrence of hydrocephalus in different strains of lab mice. Surprisingly, there were no reports on the connections of hydrocephalus with CNCCs, although the prominent role of CNCCs in normal development and pathologic conditions of craniofacial and neural tissues has been extensively studied and highly recognised. In this review, besides revealing the high prevalence of hydrocephalus (5.4%-100%), we primarily summarised the in vivo findings of hydrocephalus and the associated pathological changes of brain and craniofacial skeletal tissues with the genetically modified mouse (GMM) models of various genes knocked out in CNCCs. Significantly, the functional gene knockout in Wnt1 expressing cells can lead to hydrocephalus and associated brain and craniofacial skeletal pathologies, irrespective of the ectopic midbrain Wnt1 activation observed in Wnt1-Cre driver mice. However, the specific contributions and underpinning mechanisms of the main structures of the CSF system, including CNCCs-derived choroid plexus, to hydrocephalus pathophysiology are yet to be fully elucidated.

脑积水与颅神经嵴细胞基因突变的关系。
脑积水是由于脑室中脑脊液(CSF)积聚引起的一种病理状况,已被认为是新生儿和伴有或不伴有颅面异常的年轻人中相对常见的脑异常。它可引起身体、行为和认知症状,严重时可能导致死亡。脑积水可由多种潜在条件引起,其多因素性质使得确定单一病理生理病因具有挑战性。值得注意的是,考虑到脑积水自发性发生率极低(0.01%至0.86%),使用Wnt1-Cre的颅神经嵴细胞(CNCCs)条件敲除各种基因的小鼠模型中脑积水的发生率相对较高(高达100%)。令人惊讶的是,尽管cncc在颅面和神经组织的正常发育和病理状态中的突出作用已被广泛研究和高度认可,但没有关于脑积水与cncc之间联系的报道。在这篇综述中,除了揭示脑积水的高患病率(5.4%-100%)外,我们主要总结了脑积水的体内发现以及在cncc中敲除各种基因的转基因小鼠(GMM)模型中脑和颅面骨骼组织的相关病理变化。值得注意的是,无论在Wnt1- cre驱动小鼠中观察到的异位中脑Wnt1激活如何,表达Wnt1细胞的功能性基因敲除可导致脑积水和相关的脑和颅面骨骼病变。然而,脑脊液系统的主要结构,包括cncc衍生的脉络膜丛,对脑积水病理生理的具体贡献和基础机制尚未完全阐明。
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来源期刊
Orthodontics & Craniofacial Research
Orthodontics & Craniofacial Research 医学-牙科与口腔外科
CiteScore
5.30
自引率
3.20%
发文量
65
审稿时长
>12 weeks
期刊介绍: Orthodontics & Craniofacial Research - Genes, Growth and Development is published to serve its readers as an international forum for the presentation and critical discussion of issues pertinent to the advancement of the specialty of orthodontics and the evidence-based knowledge of craniofacial growth and development. This forum is based on scientifically supported information, but also includes minority and conflicting opinions. The objective of the journal is to facilitate effective communication between the research community and practicing clinicians. Original papers of high scientific quality that report the findings of clinical trials, clinical epidemiology, and novel therapeutic or diagnostic approaches are appropriate submissions. Similarly, we welcome papers in genetics, developmental biology, syndromology, surgery, speech and hearing, and other biomedical disciplines related to clinical orthodontics and normal and abnormal craniofacial growth and development. In addition to original and basic research, the journal publishes concise reviews, case reports of substantial value, invited essays, letters, and announcements. The journal is published quarterly. The review of submitted papers will be coordinated by the editor and members of the editorial board. It is policy to review manuscripts within 3 to 4 weeks of receipt and to publish within 3 to 6 months of acceptance.
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