Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders.

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-08-21 DOI:10.1002/ajmg.a.63855
Omar Alomari, Sinem Nur Ertan, Muhammed Edib Mokresh, Elif Yazicilar, Maryam Pourali, Fatma Esra Akyokus, Safiye Gunes Sager, Yakup Cag
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Abstract

FCH domain only 1 (FCHO1) is a key player in clathrin-mediated endocytosis, vital for various cellular processes, including immune regulation and cancer progression. However, the clinical implications of FCHO1 mutations, particularly in combined immunodeficiency, remain unclear. This systematic review aims to provide an objective analysis of the molecular genetics, clinical manifestations, and potential therapeutic targets associated with FCHO1 mutations. A systematic search following Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines was conducted across electronic databases up to March 25, 2024, to identify studies investigating the relationship between FCHO1 and different clinical manifestations. Eligibility criteria were applied to screen studies, and data extraction included study characteristics, reported symptoms, genetic variants, and primary outcomes. In silico analyses were performed to assess protein-protein interactions and gene expression patterns. Five studies were included, offering insights into the molecular genetics, T-cell deficiency mechanisms, clinical manifestations, and potential therapeutic targets associated with FCHO1 mutations. Molecular analyses identified specific mutations disrupting FCHO1 function, leading to impaired T-cell proliferation, cytokine production, and susceptibility to infections. Clinically, patients exhibited recurrent infections, lymphopenia, and malignancies, with allogeneic hematopoietic stem cell transplantation emerging as a therapeutic option. In silico analyses revealed potential interactions and co-expression between FCHO1 and genes involved in cancer progression and immune signaling pathways. This systematic review objectively elucidates the multifaceted role of FCHO1 in immune regulation and disease pathogenesis. Understanding the molecular mechanisms underlying FCHO1 mutations and their impact on disease manifestations is crucial for guiding clinical management and developing targeted therapeutic strategies.

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全面探索 FCHO1 基因突变:各种疾病的临床表现和影响。
仅有 FCH 结构域的 1 (FCHO1) 是凝集素介导的内吞过程中的关键角色,对包括免疫调节和癌症进展在内的各种细胞过程至关重要。然而,FCHO1 基因突变的临床影响,尤其是对联合免疫缺陷症的影响仍不清楚。本系统综述旨在客观分析与 FCHO1 基因突变相关的分子遗传学、临床表现和潜在治疗靶点。截至 2024 年 3 月 25 日,我们按照《系统综述和元分析首选报告项目》(Preferred Reporting Items for Systematic Reviews and Meta-Analysis,PRISMA)指南在电子数据库中进行了系统检索,以确定调查 FCHO1 与不同临床表现之间关系的研究。筛选研究时采用了资格标准,数据提取包括研究特征、报告症状、基因变异和主要结果。研究人员进行了硅学分析,以评估蛋白质与蛋白质之间的相互作用以及基因表达模式。共纳入了五项研究,这些研究深入揭示了与FCHO1基因突变相关的分子遗传学、T细胞缺乏机制、临床表现和潜在治疗靶点。分子分析确定了干扰 FCHO1 功能的特定突变,这些突变导致 T 细胞增殖、细胞因子产生和感染易感性受损。临床上,患者表现出反复感染、淋巴细胞减少和恶性肿瘤,异基因造血干细胞移植成为一种治疗选择。硅学分析揭示了FCHO1与癌症进展和免疫信号通路相关基因之间潜在的相互作用和共表达。这篇系统综述客观地阐明了 FCHO1 在免疫调节和疾病发病机制中的多方面作用。了解 FCHO1 基因突变的分子机制及其对疾病表现的影响对于指导临床治疗和制定靶向治疗策略至关重要。
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
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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