Cystic Fibrosis: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies.

IF 1.8 Q3 RESPIRATORY SYSTEM Advances in respiratory medicine Pub Date : 2024-07-20 DOI:10.3390/arm92040026
Saba Anwar, Jin-Liang Peng, Kashif Rafiq Zahid, Yu-Ming Zhou, Qurban Ali, Chong-Rong Qiu
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Abstract

A common life-threatening hereditary disease, Cystic Fibrosis (CF), affects primarily Caucasian infants. High sweat-salt levels are observed as a result of a single autosomal mutation in chromosome 7 that affects the critical function of the cystic fibrosis transmembrane regulator (CFTR). For establishing tailored treatment strategies, it is important to understand the broad range of CFTR mutations and their impacts on disease pathophysiology. This study thoroughly investigates the six main classes of classification of CFTR mutations based on their functional effects. Each class is distinguished by distinct molecular flaws, such as poor protein synthesis, misfolding, gating defects, conduction defects, and decreased CFTR expression at the apical membrane. Furthermore, this paper focuses on the emerging field of CFTR modulators, which intend to restore CFTR function or mitigate its consequences. These modulators, which are characterized by the mode of action and targeted mutation class, have the potential to provide personalized therapy regimens in CF patients. This review provides valuable insights into the genetic basis of CF pathology, and highlights the potential for precision medicine methods in CF therapy by thoroughly investigating CFTR mutation classification and related modulators.

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囊性纤维化:了解囊性纤维化跨膜调节器突变分类和调节器疗法。
囊性纤维化(CF)是一种常见的危及生命的遗传性疾病,主要影响白种婴儿。由于第 7 号染色体上的单个常染色体突变影响了囊性纤维化跨膜调节器(CFTR)的关键功能,因此会出现高汗盐水平。为了制定有针对性的治疗策略,了解各种 CFTR 突变及其对疾病病理生理学的影响非常重要。本研究根据 CFTR 基因突变的功能影响,深入研究了 CFTR 基因突变的六大类分类。每一类都有明显的分子缺陷,如蛋白质合成不良、错误折叠、门控缺陷、传导缺陷和顶端膜 CFTR 表达减少。此外,本文还重点介绍了 CFTR 调节剂这一新兴领域,其目的是恢复 CFTR 的功能或减轻其后果。这些调节剂以作用方式和靶向突变类别为特征,有可能为 CF 患者提供个性化的治疗方案。本综述对 CF 病理学的遗传基础提供了有价值的见解,并通过深入研究 CFTR 突变分类和相关调节剂,强调了精准医学方法在 CF 治疗中的潜力。
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来源期刊
Advances in respiratory medicine
Advances in respiratory medicine RESPIRATORY SYSTEM-
CiteScore
2.60
自引率
0.00%
发文量
90
期刊介绍: "Advances in Respiratory Medicine" is a new international title for "Pneumonologia i Alergologia Polska", edited bimonthly and addressed to respiratory professionals. The Journal contains peer-reviewed original research papers, short communications, case-reports, recommendations of the Polish Respiratory Society concerning the diagnosis and treatment of lung diseases, editorials, postgraduate education articles, letters and book reviews in the field of pneumonology, allergology, oncology, immunology and infectious diseases. "Advances in Respiratory Medicine" is an open access, official journal of Polish Society of Lung Diseases, Polish Society of Allergology and National Research Institute of Tuberculosis and Lung Diseases.
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