Department of Medical Biotechnology, Acıbadem Mehmet Ali Aydınlar University, Institute of Health Sciences, Istanbul, Turkey.
Department of Basic Sciences, Dentistry Faculty, Istanbul Kent University, Istanbul, Turkey.
J Cell Mol Med. 2024 Oct;28(20):e70087. doi: 10.1111/jcmm.70087.
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.
戈谢病（GD）是最常见的溶酶体贮积症。它是一种由 GBA 致病突变引起的多系统代谢性疾病。尽管一般症状已经为人熟知，但新的治疗可能性、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重要因素。戈谢细胞在疾病中的作用已经得到很好的描述。除了吞噬性巨噬细胞外，淋巴细胞、补体系统和炎症途径成分也与 GD 有关，因为它们被证明是导致帕金森病等相关病理的潜在因素。在本文中，根据新的发现，研究了 GD 与免疫系统之间的关系。
