Intracellular Trafficking Defects in Congenital Intestinal and Hepatic Diseases.

IF 3.6 3区 生物学 Q3 CELL BIOLOGY
Traffic Pub Date : 2024-08-01 DOI:10.1111/tra.12954
Luca Szabó, Adam R Pollio, Georg Friedrich Vogel
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引用次数: 0

Abstract

Enterocytes and liver cells fulfill important metabolic and barrier functions and are responsible for crucial vectorial secretive and absorptive processes. To date, genetic diseases affecting metabolic enzymes or transmembrane transporters in the intestine and the liver are better comprehended than mutations affecting intracellular trafficking. In this review, we explore the emerging knowledge on intracellular trafficking defects and their clinical manifestations in both the intestine and the liver. We provide a detailed overview including more investigated diseases such as the canonical, variant and associated forms of microvillus inclusion disease, as well as recently described pathologies, highlighting the complexity and disease relevance of several trafficking pathways. We give examples of how intracellular trafficking hubs, such as the apical recycling endosome system, the trans-Golgi network, lysosomes, or the Golgi-to-endoplasmic reticulum transport are involved in the pathomechanism and lead to disease. Ultimately, understanding these processes could spark novel therapeutic approaches, which would greatly improve the quality of life of the affected patients.

先天性肠道和肝脏疾病中的细胞内运输缺陷。
肠细胞和肝细胞具有重要的新陈代谢和屏障功能,并负责重要的载体分泌和吸收过程。迄今为止,影响肠道和肝脏代谢酶或跨膜转运体的遗传疾病比影响细胞内转运的突变更容易理解。在这篇综述中,我们探讨了有关肠道和肝脏细胞内转运缺陷及其临床表现的新知识。我们提供了一份详细的综述,其中包括研究较多的疾病,如小绒毛膜包涵体病的典型形式、变异形式和相关形式,以及最近描述的病理现象,强调了几种贩运途径的复杂性和疾病相关性。我们举例说明了细胞内的转运枢纽,如顶端循环内质体系统、跨高尔基体网络、溶酶体或高尔基体到内质网的转运是如何参与病理机制并导致疾病的。最终,了解这些过程可以激发新的治疗方法,从而大大改善患者的生活质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Traffic
Traffic 生物-细胞生物学
CiteScore
8.10
自引率
2.20%
发文量
50
审稿时长
2 months
期刊介绍: Traffic encourages and facilitates the publication of papers in any field relating to intracellular transport in health and disease. Traffic papers span disciplines such as developmental biology, neuroscience, innate and adaptive immunity, epithelial cell biology, intracellular pathogens and host-pathogen interactions, among others using any eukaryotic model system. Areas of particular interest include protein, nucleic acid and lipid traffic, molecular motors, intracellular pathogens, intracellular proteolysis, nuclear import and export, cytokinesis and the cell cycle, the interface between signaling and trafficking or localization, protein translocation, the cell biology of adaptive an innate immunity, organelle biogenesis, metabolism, cell polarity and organization, and organelle movement. All aspects of the structural, molecular biology, biochemistry, genetics, morphology, intracellular signaling and relationship to hereditary or infectious diseases will be covered. Manuscripts must provide a clear conceptual or mechanistic advance. The editors will reject papers that require major changes, including addition of significant experimental data or other significant revision. Traffic will consider manuscripts of any length, but encourages authors to limit their papers to 16 typeset pages or less.
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