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儿童期罕见神经退行性疾病中的金属生物。

Biometals in rare neurodegenerative disorders of childhood.

机构信息

Department of Neurobiology, A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland Kuopio, Finland.

出版信息

Front Aging Neurosci. 2013 Mar 25;5:14. doi: 10.3389/fnagi.2013.00014. eCollection 2013.

Abstract

Copper, iron, and zinc are just three of the main biometals critical for correct functioning of the central nervous system (CNS). They have diverse roles in many functional processes including but not limited to enzyme catalysis, protein stabilization, and energy production. The range of metal concentrations within the body is tightly regulated and when the balance is perturbed, debilitating effects ensue. Homeostasis of brain biometals is mainly controlled by various metal transporters and metal sequestering proteins. The biological roles of biometals are vastly reviewed in the literature with a large focus on the connection to neurological conditions associated with ageing. Biometals are also implicated in a variety of debilitating inherited childhood disorders, some of which arise soon following birth or as the child progresses into early adulthood. This review acts to highlight what we know about biometals in childhood neurological disorders such as Wilson's disease (WD), Menkes disease (MD), neuronal ceroid lipofuscinoses (NCLs), and neurodegeneration with brain iron accumulation (NBIA). Also discussed are some of the animal models available to determine the pathological mechanisms in these childhood disorders, which we hope will aid in our understanding of the role of biometals in disease and in attaining possible therapeutics in the future.

摘要

铜、铁和锌只是中枢神经系统(CNS)正常运作所必需的三种主要生命必需金属元素。它们在许多功能过程中具有多种作用,包括但不限于酶催化、蛋白质稳定和能量产生。体内金属浓度范围受到严格调节,当平衡受到干扰时,就会产生衰弱的影响。脑生命必需金属的动态平衡主要由各种金属转运体和金属结合蛋白控制。文献中广泛综述了生命必需金属的生物学作用,重点关注与衰老相关的神经病变。生命必需金属还与多种使人衰弱的遗传性儿童疾病有关,其中一些疾病在出生后不久或儿童进入成年早期就会出现。本综述旨在强调我们对儿童神经病变中生命必需金属的了解,如威尔逊病(WD)、Menkes 病(MD)、神经细胞蜡样质脂褐质沉积症(NCLs)和脑铁积累伴神经退行性变(NBIA)。还讨论了一些可用于确定这些儿童疾病中病理机制的动物模型,我们希望这将有助于我们了解生命必需金属在疾病中的作用,并在未来获得可能的治疗方法。

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