Cooperative Innovation Center of Industrial Fermentation (Ministry of Education & Hubei Province), Key Laboratory of Fermentation Engineering (Ministry of Education), Wuhan 430068, China.
Hubei Key Laboratory of Industrial Microbiology, National "111" Center for Cellular Regulation and Molecular Pharmaceutics, Hubei University of Technology, Wuhan 430068, China.
Int J Mol Sci. 2024 Jun 7;25(12):6340. doi: 10.3390/ijms25126340.
Polyamines are ubiquitous in almost all biological entities and involved in various crucial physiological processes. They are also closely associated with the onset and progression of many diseases. Polyaminopathies are a group of rare genetic disorders caused by alterations in the function of proteins within the polyamine metabolism network. Although the identified polyaminopathies are all rare diseases at present, they are genetically heritable, rendering high risks not only to the carriers but also to their descendants. Meanwhile, more polyaminopathic patients might be discovered with the increasing accessibility of gene sequencing. This review aims to provide a comprehensive overview of the structural variations of mutated proteins in current polyaminopathies, in addition to their causative genes, types of mutations, clinical symptoms, and therapeutic approaches. We focus on analyzing how alterations in protein structure lead to protein dysfunction, thereby facilitating the onset of diseases. We hope this review will offer valuable insights and references for the future clinical diagnosis and precision treatment of polyaminopathies.
多胺广泛存在于几乎所有生物实体中，参与各种关键的生理过程。它们也与许多疾病的发生和发展密切相关。多胺病是一组由多胺代谢网络中蛋白质功能改变引起的罕见遗传疾病。虽然目前已确定的多胺病都是罕见疾病，但它们是遗传可遗传的，不仅对携带者，而且对其后代都有很高的风险。同时，随着基因测序的普及，可能会发现更多的多胺病患者。本综述旨在全面概述目前多胺病中突变蛋白的结构变化，以及它们的致病基因、突变类型、临床症状和治疗方法。我们重点分析蛋白质结构的改变如何导致蛋白质功能障碍，从而促进疾病的发生。我们希望本综述能为多胺病的未来临床诊断和精准治疗提供有价值的见解和参考。
