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SLC4 分子在人类疾病中的治疗潜力。

Potential Theranostic Roles of SLC4 Molecules in Human Diseases.

机构信息

State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710032, China.

出版信息

Int J Mol Sci. 2023 Oct 13;24(20):15166. doi: 10.3390/ijms242015166.

Abstract

The solute carrier family 4 (SLC4) is an important protein responsible for the transport of various ions across the cell membrane and mediating diverse physiological functions, such as the ion transporting function, protein-to-protein interactions, and molecular transduction. The deficiencies in SLC4 molecules may cause multisystem disease involving, particularly, the respiratory system, digestive, urinary, endocrine, hematopoietic, and central nervous systems. Currently, there are no effective strategies to treat these diseases. SLC4 proteins are also found to contribute to tumorigenesis and development, and some of them are regarded as therapeutic targets in quite a few clinical trials. This indicates that SLC4 proteins have potential clinical prospects. In view of their functional characteristics, there is a critical need to review the specific functions of bicarbonate transporters, their related diseases, and the involved pathological mechanisms. We summarize the diseases caused by the mutations in family genes and briefly introduce the clinical manifestations of these diseases as well as the current treatment strategies. Additionally, we illustrate their roles in terms of the physiology and pathogenesis that has been currently researched, which might be the future therapeutic and diagnostic targets of diseases and a new direction for drug research and development.

摘要

溶质载体家族 4(SLC4)是一种重要的蛋白质,负责跨细胞膜运输各种离子,并介导多种生理功能,如离子转运功能、蛋白质-蛋白质相互作用和分子转导。SLC4 分子的缺陷可能导致多系统疾病,特别是涉及呼吸系统、消化系统、泌尿系统、内分泌系统、造血系统和中枢神经系统。目前,尚无有效的治疗这些疾病的策略。SLC4 蛋白也被发现与肿瘤的发生和发展有关,其中一些蛋白被认为是相当多临床试验中的治疗靶点。这表明 SLC4 蛋白具有潜在的临床前景。鉴于其功能特点,有必要详细研究碳酸氢盐转运蛋白的特定功能、相关疾病以及涉及的病理机制。我们总结了家族基因突变引起的疾病,并简要介绍了这些疾病的临床表现以及目前的治疗策略。此外,我们还根据目前研究的生理学和发病机制阐述了它们的作用,这可能是疾病治疗和诊断的未来靶点,也是药物研发的新方向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebed/10606849/adba148613d3/ijms-24-15166-g001.jpg

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