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[镁稳态:机制与遗传性疾病]

[Magnesium homeostasis: mechanisms and inherited disorders].

作者信息

Zinov'eva V N, Iezhitsa I N, Spasov A A

出版信息

Biomed Khim. 2007 Nov-Dec;53(6):683-704.

PMID:18323153
Abstract

Magnesium is one of the major cations of biological systems. It plays an essential role in many cell processes. The importance of magnesium underlines its maintenance under the steady conditions according to the metabolic state of the cell. In the present review mechanisms of magnesium homeostasis, that have been intensively investigated during last decades using both pathophysiological and molecular genetic approaches, are considered. Disorders of magnesium homeostasis resulted in development of magnesium-deficient conditions, which are commonly found in various diseases (diabetes mellitus, cardiovascular diseases, chronic fatigue, alcoholism, psychiatric and neurologic diseases, etc.), stress condition and therapy with some kind of drugs. Special attention is paid to familial hypomagnesemias caused by genetic defects of magnesium transport systems. Overview of clinical and biochemical characteristics of twelve familial disorders is given and mechanisms of inherited magnesium homeostasis disorders as well as nine identified and mapped genes responsible for their development are considered. These genes encode subunits of ionic channels, co-transporters, modulators of transport systems and receptors controlling either intestinal absorption or renal reabsorption of magnesium. Recent advances in mechanisms of magnesium homeostasis will lead to insights in diagnostics, preventive medicine and treatment of magnesium-deficient conditions.

摘要

镁是生物系统中的主要阳离子之一。它在许多细胞过程中发挥着至关重要的作用。镁的重要性突出了根据细胞的代谢状态在稳定条件下维持其水平的必要性。在本综述中,我们将探讨镁稳态的机制,在过去几十年中,人们使用病理生理学和分子遗传学方法对其进行了深入研究。镁稳态紊乱会导致缺镁状态的出现,这在各种疾病(糖尿病、心血管疾病、慢性疲劳、酗酒、精神和神经疾病等)、应激状态以及某些药物治疗中很常见。特别关注由镁转运系统遗传缺陷引起的家族性低镁血症。本文给出了十二种家族性疾病的临床和生化特征概述,并探讨了遗传性镁稳态紊乱的机制以及九个已确定和定位的与疾病发生相关的基因。这些基因编码离子通道亚基、共转运体、转运系统调节剂以及控制镁肠道吸收或肾脏重吸收的受体。镁稳态机制的最新进展将有助于深入了解缺镁状态的诊断、预防医学和治疗。

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