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引用次数: 0
摘要
戈谢病(GD)是最常见的溶酶体储积症。它是一种由 GBA 致病基因突变引起的多系统代谢性疾病。尽管人们很早就知道这种疾病的一般症状,但新的治疗方法、不同生物标志物的检测以及诊断和随访方面的创新为进一步的研究铺平了道路。最近的研究表明,免疫系统已成为与疾病进展相关的一个重要因素。戈谢病细胞在疾病中的作用已得到充分证实。除了吞噬巨噬细胞外,淋巴细胞、补体系统和炎症通路要素也与戈谢病有关,因为它们被证明是导致帕金森病等相关病症的潜在因素。本文将根据新的研究结果对 GD 与免疫系统之间的关系进行研究和综述。
Old disease—New reflections: Gaucher, immunity, and inflammation
Gaucher disease (GD) is the most common lysosomal storage disease. It is a multisystemic metabolic disease caused by GBA pathogenic mutations. Although the general symptoms have been known for a long time, new treatment possibilities, the detection of different biomarkers, and innovations in diagnosis and follow-up have paved the way for further studies. Recent studies have shown that the immune system has become an essential factor associated with disease progression. The role of Gaucher cells in the disease is well characterized. In addition to phagocytic macrophage cells, lymphocytes, complement system, and inflammatory pathway elements are also implicated in GD as they were shown to be the underlying factors causing associated pathologies such as Parkinson's. In this article, the relationship between the GD and the immune system has been examined and reviewed in light of new findings.
期刊介绍:
The Journal of Cellular and Molecular Medicine serves as a bridge between physiology and cellular medicine, as well as molecular biology and molecular therapeutics. With a 20-year history, the journal adopts an interdisciplinary approach to showcase innovative discoveries.
It publishes research aimed at advancing the collective understanding of the cellular and molecular mechanisms underlying diseases. The journal emphasizes translational studies that translate this knowledge into therapeutic strategies. Being fully open access, the journal is accessible to all readers.