ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.
SienabioACTIVE-SbA, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.
Cells. 2024 Jun 20;13(12):1072. doi: 10.3390/cells13121072.
Alkaptonuria (AKU) is a genetic disorder that affects connective tissues of several body compartments causing cartilage degeneration, tendon calcification, heart problems, and an invalidating, early-onset form of osteoarthritis. The molecular mechanisms underlying AKU involve homogentisic acid (HGA) accumulation in cells and tissues. HGA is highly reactive, able to modify several macromolecules, and activates different pathways, mostly involved in the onset and propagation of oxidative stress and inflammation, with consequences spreading from the microscopic to the macroscopic level leading to irreversible damage. Gaining a deeper understanding of AKU molecular mechanisms may provide novel possible therapeutical approaches to counteract disease progression. In this review, we first describe inflammation and oxidative stress in AKU and discuss similarities with other more common disorders. Then, we focus on HGA reactivity and AKU molecular mechanisms. We finally describe a multi-purpose digital platform, named ApreciseKUre, created to facilitate data collection, integration, and analysis of AKU-related data.
尿黑酸尿症（AKU）是一种遗传疾病，影响身体多个部位的结缔组织，导致软骨退化、肌腱钙化、心脏问题以及一种使人致残的早发性骨关节炎。AKU 的分子机制涉及细胞和组织中高苯丙氨酸（HGA）的积累。HGA 具有很高的反应性，能够修饰几种大分子，并激活不同的途径，这些途径主要涉及氧化应激和炎症的发生和传播，其后果从微观层面扩散到宏观层面，导致不可逆转的损伤。深入了解 AKU 的分子机制可能为对抗疾病进展提供新的治疗方法。在这篇综述中，我们首先描述了 AKU 中的炎症和氧化应激，并讨论了其与其他更常见疾病的相似之处。然后，我们专注于 HGA 的反应性和 AKU 的分子机制。最后，我们描述了一个名为 ApreciseKUre 的多功能数字平台，该平台旨在促进 AKU 相关数据的收集、整合和分析。
Zotero 插件
