Țiburcă Laura, Zaha Dana Carmen, Jurca Maria Claudia, Severin Emilia, Jurca Aurora, Jurca Alexandru Daniel
Faculty of Medicine and Pharmacy, University of Oradea, Universității Street 1, 410087 Oradea, Romania.
Regional Center of Medical Genetics Bihor, County Emergency Clinical Hospital, Bihor, 65-67, Gheorghe Doja Street, 410169 Oradea, Romania.
Curr Issues Mol Biol. 2024 Feb 20;46(3):1651-1667. doi: 10.3390/cimb46030107.
Aminopeptidases are a group of enzymatic proteins crucial for protein digestion, catalyzing the cleavage of amino acids at the N-terminus of peptides. Among them are (coding for endoplasmic reticulum aminopeptidase 1), (coding for endoplasmic reticulum aminopeptidase 2), and (coding for leucyl and cystinyl aminopeptidase). These genes encoding these enzymes are contiguous and located on the same chromosome (5q21); they share structural homology and functions and are associated with immune-mediated diseases. These aminopeptidases play a key role in immune pathology by cleaving peptides to optimal sizes for binding to the major histocompatibility complex (MHC) and contribute to cellular homeostasis. By their ability to remove the extracellular region of interleukin 2 and 6 receptors (IL2, IL6) and the tumor necrosis factor receptor (TNF), and are involved in regulating the innate immune response and, finally, in blood pressure control and angiogenesis. The combination of specific genetic variations in these genes has been linked to various conditions, including autoimmune and autoinflammatory diseases and cancer, as well as hematological and dermatological disorders. This literature review aims to primarily explore the impact of polymorphisms on its enzymatic activity and function. Through a systematic examination of the available literature, this review seeks to provide valuable insights into the role of in the pathogenesis of various diseases and its potential implications for targeted therapeutic interventions. Through an exploration of the complex interplay between ERAP1 and various disease states, this review contributes to the synthesis of current biomedical research findings and their implications for personalized medicine.
氨肽酶是一组对蛋白质消化至关重要的酶蛋白，催化肽链N端氨基酸的裂解。其中包括（编码内质网氨肽酶1）、（编码内质网氨肽酶2）和（编码亮氨酰和胱氨酰氨肽酶）。这些编码这些酶的基因是连续的，位于同一条染色体（5q21）上；它们具有结构同源性和功能，并且与免疫介导的疾病相关。这些氨肽酶通过将肽裂解为适合与主要组织相容性复合体（MHC）结合的最佳大小，在免疫病理学中发挥关键作用，并有助于细胞内稳态。通过去除白细胞介素2和6受体（IL2、IL6）以及肿瘤坏死因子受体（TNF）的细胞外区域的能力，和参与调节先天免疫反应，并最终参与血压控制和血管生成。这些基因中特定基因变异的组合与多种疾病相关，包括自身免疫性和自身炎症性疾病、癌症以及血液学和皮肤病学疾病。这篇文献综述旨在主要探讨多态性对其酶活性和功能的影响。通过对现有文献的系统研究，本综述旨在为在各种疾病发病机制中的作用及其对靶向治疗干预的潜在影响提供有价值的见解。通过探索ERAP1与各种疾病状态之间的复杂相互作用关系，本综述有助于综合当前生物医学研究结果及其对个性化医学的意义。
