Zvida-Bloch Tal, Muchtar Eli, Dispenzieri Angela, Shpilberg Ofer, Hershkovitz-Rokah Oshrat
Department of Molecular Biology, Faculty of Natural Sciences, Ariel University, Ariel, Israel.
Translational Research Lab, Assuta Medical Centers, Tel-Aviv, Israel.
Br J Haematol. 2025 May;206(5):1297-1311. doi: 10.1111/bjh.20070. Epub 2025 Apr 11.
Amyloid light-chain (AL) amyloidosis is a systemic clonal plasma cell disorder characterized by the production and deposition of misfolded immunoglobulin light chains (LCs), resulting in multiorgan dysfunction. Due to its intricate molecular mechanisms and diverse organ involvement, the disease poses significant diagnostic and therapeutic challenges. This review explores the molecular landscape of AL amyloidosis, emphasizing genetic, transcriptomic and proteomic alterations. Key findings include chromosomal abnormalities, somatic mutations, aberrant gene expression, disrupted protein folding pathways and the role of cytokine and chemokine secretion. These factors collectively drive the overproduction and destabilization of amyloidogenic LCs, leading to organ-specific amyloid deposition, clinical heterogeneity and variable patient outcomes. Despite therapeutic advancements, the disease's complexity challenges the development of effective biological models. Progressing towards personalized therapies requires the development of preclinical models and the identification of biomarkers and molecular data to design targeted interventions. This review highlights the importance of integrating DNA, RNA and protein-level analyses to deepen the understanding of AL amyloidosis pathogenesis. Such insights are pivotal for improving diagnostics, prognostics and therapeutic strategies, ultimately advancing precision medicine for this challenging disease.
淀粉样轻链(AL)淀粉样变性是一种系统性克隆性浆细胞疾病,其特征是错误折叠的免疫球蛋白轻链(LC)产生并沉积,导致多器官功能障碍。由于其复杂的分子机制和多器官受累,该疾病带来了重大的诊断和治疗挑战。本综述探讨了AL淀粉样变性的分子格局,重点强调了遗传、转录组和蛋白质组学改变。主要发现包括染色体异常、体细胞突变、异常基因表达、蛋白质折叠途径紊乱以及细胞因子和趋化因子分泌的作用。这些因素共同导致淀粉样轻链的过度产生和不稳定,从而导致器官特异性淀粉样沉积、临床异质性和不同的患者预后。尽管治疗取得了进展,但该疾病的复杂性对有效生物学模型的开发构成了挑战。向个性化治疗迈进需要开发临床前模型并识别生物标志物和分子数据,以设计靶向干预措施。本综述强调了整合DNA、RNA和蛋白质水平分析以加深对AL淀粉样变性发病机制理解的重要性。这些见解对于改善诊断、预后和治疗策略至关重要,最终推动针对这一具有挑战性疾病的精准医学发展。