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Kallmann syndrome

内分泌

关键词内分泌 疾病 性功能减退

词汇介绍

拓展阅读

解析

Kallmann

释    义   n. (Kallmann)人名;(英、德)卡尔曼

例    句   Kit Moresby: Kallmann, we're not tourists. We're travelers. 凯特莫斯比:卡曼,我们不是游客,我们是旅行者。

 

Syndrome   英 /ˈsɪndrəʊm/   美 /ˈsɪndroʊm/

释    义   n.  [临床] 综合症状;并发症状;校验子;并发位

               n.  (Syndrome)人名;(英)辛德罗姆

例    句   And Cotard's syndrome is you believe that you're dead; you believe that you're dead; you are persuaded that you're dead. 科塔尔综合症是你认为自己已经死了,你很确定自己已经死了

概述

卡尔曼氏综合症(KS)的患病率仍未知,据估计,男孩中有八十分之一的患病率,在女孩中,患病率被认为要低五倍,但由于某些受影响的女性仅患有轻度性腺功能低下症,因此可能被低估了。KS通常合并严重的低促性腺激素性功能减退症(HH)和完全没有嗅觉,性腺功能减退症的程度和气味缺乏相关性非常显著,不仅表现在无关患者之间,而且也表现于相关家庭中,甚至在单卵双生子之间。在一些家庭中,两个典型的KS的表型,并用性腺机能减退或嗅觉丧失表型解离已描述。最后,各种非生殖非嗅觉附加异常是存在于仅KS的患者的一小部分。这

Nasal Placode Development, GnRH Neuronal Migration and Kallmann Syndrome复制标题

鼻胎盘发育、GnRH神经元迁移与Kallmann综合征

发表时间:2019-07-11

影响因子:5.2

作者: Hyun-Ju Cho

期刊:Front Cell Dev Biol

Unraveling how specialized neurons arise from heterogenous cell populations and then migrate to their appropriate location has important implications for understanding the development and progression of neuronal disorders. Proper establishment of the Gonadotropin releasing hormone-1 (GnRH) system is crucial for function of the reproduction system in vertebrates. GnRH neurons originate within the nasal placode, a region that also gives rise to olfactory sensory neurons (both those that sense odors as well as those that sense pheromones) and olfactory ensheathing cells (OECs). As the nasal placode invaginates to form the main olfactory epithelium (OE) and the vomeronasal organ (VNO), GnRH neurons migrate out of the VNO to the brain along axons that are covered by OECs. Once within the forebrain, GnRH neurons function in hormone signaling through the hypothalamic-pituitary-gonadal (HPG) axis. In humans, improper development of the nasal placode and/or migration of GnRH neurons results in various forms of hypogonadism, including Kallmann Syndrome (KS) which is characterized by anosmia and lack of sexual development. Ongoing studies continue to support the occurrence of oligogenism in KS patients, indicating that a combination of mutations or rare variants on two or more genes can underlie the disease (di/oligogenic disorder). As such, one needs to understand the cellular components that GnRH neurons are exposed to, how they interact, which are redundant and who may compensate. In addition, the question remains as to the diversity of GnRH cells themselves -Do subpopulations exist (expressing different receptors perhaps), responding to different cues, to ensure some GnRH cells reach the brain and the animal can reproduce? Since the development of the GnRH system is intimately entwined with the development of the olfactory system, factors that regulate development of the nasal placode and thus GnRH cells are discussed in Section “Development of the Olfactory Placode and GnRH Neurons”. Section “Migration of GnRH Neurons From the Nose to the Brain” focuses on factors that influence outgrowth of olfactory axons and migration of the GnRH neurons. Then, in the last section, we discuss mutations in humans with KS that result from disruption of normal development of the GnRH/olfactory systems and present new candidate genes that might contribute to KS based on bioinformatic analysis of known KS genes.

译文

阐明特殊的神经元如何从异种细胞群体中产生,然后迁移到其适当的位置,对于理解神经元疾病的发生和发展具有重要意义。促性腺激素释放激素-1(GnRH)系统的正确建立对于脊椎动物生殖系统的功能至关重要。 GnRH神经元起源于鼻斑内,该区域还会产生嗅觉感觉神经元(既能感知气味又能感知信息素的神经元)和嗅觉鞘细胞(OEC)。当鼻斑开始形成主要的嗅觉上皮(OE)和犁鼻器官(VNO)时,GnRH神经元会沿着OEC覆盖的轴突从VNO迁移到大脑。一旦进入前脑,GnRH神经元就会通过下丘脑-垂体-性腺(HPG)轴在激素信号传导中起作用。在人类中,鼻部斑块的不适当发育和/或GnRH神经元的迁移会导致各种形式的性腺机能减退,包括以失眠和缺乏性发育为特征的卡尔曼综合症(KS)。正在进行的研究继续支持KS患者发生寡聚症,表明两种或多种基因的突变或罕见变体组合可能是该疾病的基础(di /寡聚性疾病)。因此,需要了解GnRH神经元所接触的细胞成分,它们如何相互作用,哪些是多余的以及谁可以补偿。此外,关于GnRH细胞本身的多样性仍然存在问题-是否存在亚群(也许表达不同的受体),对不同的线索做出反应,以确保某些GnRH细胞到达大脑并且动物能够繁殖?由于GnRH系统的发展与嗅觉系统的发展息息相关,因此在“嗅觉平台和GnRH神经元的发育”一节中讨论了调节鼻斑和GnRH细胞发育的因素。 “从鼻子到大脑的GnRH神经元迁移”一节重点介绍影响嗅觉轴突生长和GnRH神经元迁移的因素。然后,在最后一节中,我们讨论了由GnRH /嗅觉系统正常发育受到破坏而导致的KS突变,并根据已知KS基因的生物信息学分析,提出了可能有助于KS的新候选基因。