Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Department of Cardiovascular, Endocrine-Metabolic Diseases, and Aging, Italian National Institute of Health, 00161 Rome, Italy.
Molecules. 2021 Sep 16;26(18):5616. doi: 10.3390/molecules26185616.
Although mucopolysaccharidoses (MPS) are caused by mutations in genes coding for enzymes responsible for degradation of glycosaminoglycans, storage of these compounds is crucial but is not the only pathomechanism of these severe, inherited metabolic diseases. Among various factors and processes influencing the course of MPS, oxidative stress appears to be a major one. Oxidative imbalance, occurring in MPS and resulting in increased levels of reactive oxidative species, causes damage of various biomolecules, leading to worsening of symptoms, especially in the central nervous system (but not restricted to this system). A few therapeutic options are available for some types of MPS, including enzyme replacement therapy and hematopoietic stem cell transplantation, however, none of them are fully effective in reducing all symptoms. A possibility that molecules with antioxidative activities might be useful accompanying drugs, administered together with other therapies, is discussed in light of the potential efficacy of MPS treatment.
尽管黏多糖贮积症(MPS)是由编码负责降解糖胺聚糖的酶的基因突变引起的,但这些化合物的储存对于这些严重的遗传性代谢疾病至关重要,但不是唯一的发病机制。在影响 MPS 病程的各种因素和过程中,氧化应激似乎是一个主要因素。MPS 中发生的氧化失衡导致活性氧物质水平升高,导致各种生物分子受损,从而导致症状恶化,尤其是在中枢神经系统(但不限于该系统)。一些治疗方法可用于某些类型的 MPS,包括酶替代疗法和造血干细胞移植,但它们都不能完全有效减轻所有症状。鉴于 MPS 治疗的潜在疗效,讨论了具有抗氧化活性的分子可能作为伴随药物与其他疗法联合使用的可能性。