Wiesinger Anna-Maria, Bigger Brian, Giugliani Roberto, Scarpa Maurizio, Moser Tobias, Lampe Christina, Kampmann Christoph, Lagler Florian B
Institute of Congenital Metabolic Diseases, Paracelsus Medical University, Salzburg, Austria.
European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy.
Front Pharmacol. 2022 May 13;13:863667. doi: 10.3389/fphar.2022.863667. eCollection 2022.
Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases (LSDs), characterized by the accumulation of glycosaminoglycans (GAGs). GAG storage-induced inflammatory processes are a driver of cytopathology in MPS and pharmacological immunomodulation can bring improvements in brain, cartilage and bone pathology in rodent models. This manuscript reviews current knowledge with regard to inflammation in MPS patients and provides hypotheses for the therapeutic use of immunomodulators in MPS. Thus, we aim to set the foundation for a rational repurposing of the discussed molecules to minimize the clinical unmet needs still remaining despite enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT).
黏多糖贮积症(MPS)是一组溶酶体贮积病(LSDs),其特征是糖胺聚糖(GAGs)的蓄积。GAG蓄积引发的炎症过程是MPS细胞病理学的驱动因素,在啮齿动物模型中,药理免疫调节可改善脑、软骨和骨骼病理。本文综述了关于MPS患者炎症的现有知识,并提出了免疫调节剂在MPS治疗中的应用假说。因此,我们旨在为合理重新利用所讨论的分子奠定基础,以尽量减少尽管有酶替代疗法(ERT)和造血干细胞移植(HSCT)但仍存在的临床未满足需求。