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磷脂酰肌醇代谢途径异常的遗传背景及其与肌小管肌病、神经退行性疾病和癌症发生的关系。

The Genetic Background of Abnormalities in Metabolic Pathways of Phosphoinositides and Their Linkage with the Myotubular Myopathies, Neurodegenerative Disorders, and Carcinogenesis.

机构信息

Department of Human Physiology and Pathophysiology, School of Medicine, Collegium Medicum, University of Warmia and Mazury, 10-082 Olsztyn, Poland.

Students' Scientific Club of Pathophysiologists, Department of Human Physiology and Pathophysiology, School of Medicine, University of Warmia and Mazury, 10-082 Olsztyn, Poland.

出版信息

Biomolecules. 2023 Oct 19;13(10):1550. doi: 10.3390/biom13101550.

Abstract

Myo-inositol belongs to one of the sugar alcohol groups known as cyclitols. Phosphatidylinositols are one of the derivatives of Myo-inositol, and constitute important mediators in many intracellular processes such as cell growth, cell differentiation, receptor recycling, cytoskeletal organization, and membrane fusion. They also have even more functions that are essential for cell survival. Mutations in genes encoding phosphatidylinositols and their derivatives can lead to many disorders. This review aims to perform an in-depth analysis of these connections. Many authors emphasize the significant influence of phosphatidylinositols and phosphatidylinositols' phosphates in the pathogenesis of myotubular myopathies, neurodegenerative disorders, carcinogenesis, and other less frequently observed diseases. In our review, we have focused on three of the most often mentioned groups of disorders. Inositols are the topic of many studies, and yet, there are no clear results of successful clinical trials. Analysis of the available literature gives promising results and shows that further research is still needed.

摘要

肌醇属于糖醇群之一,称为环己糖醇。磷脂酰肌醇是肌醇的衍生物之一,是许多细胞内过程(如细胞生长、细胞分化、受体再循环、细胞骨架组织和膜融合)的重要介质。它们甚至还有许多对细胞生存至关重要的功能。编码磷脂酰肌醇及其衍生物的基因突变可导致多种疾病。本综述旨在深入分析这些联系。许多作者强调了磷脂酰肌醇及其磷酸酯在肌小管肌病、神经退行性疾病、肿瘤发生和其他较少见的疾病发病机制中的重要影响。在我们的综述中,我们重点关注了三种最常提到的疾病组。肌醇是许多研究的主题,但目前还没有临床试验成功的明确结果。对现有文献的分析给出了有希望的结果,并表明仍需要进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0232/10605126/b230c9df37b4/biomolecules-13-01550-g001.jpg

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