Abstract

Mucopolysaccharidosis (MPS) consists of a group of 11 enzymatic defects which result in accumulation of undegraded glycosaminoglycans (GAG) in lysosomes. MPS is a severe metabolic disease for which only bone marrow/hematopoietic stem cell transplantation and enzyme replacement therapy are current therapeutic options. However, they are available for only a few of MPS types, and are ineffective in treatment of central nervous system. Recent studies indicated that the autophagy process can be impaired in MPS, but various contradictory conclusions have been published in this matter. Nevertheless, stimulation of autophagy has been proposed as a potential therapeutic option for MPS, and very recent results suggest that such approach might be effective in improving MPS symptoms. Still the mechanisms of autophagy changes in MPS are not clear, and efficiency of autophagy activation in clearing the storage material requires further investigation. These problems are summarized and discussed in this review.

中文翻译：

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黏多糖贮积症和自噬：关于过程对发病机理的贡献和可能的治疗应用的争议

摘要

粘多糖贮积病（MPS）由11个酶学缺陷组成，这些缺陷导致未降解的糖胺聚糖（GAG）积累在溶酶体中。MPS是一种严重的代谢疾病，目前仅骨髓/造血干细胞移植和酶替代疗法可作为其治疗选择。但是，它们仅可用于几种MPS类型，并且在治疗中枢神经系统方面无效。最近的研究表明，自噬过程可能会在MPS中受损，但是有关此问题的各种矛盾结论已经发表。然而，自噬刺激已被提议作为MPS的潜在治疗选择，最近的结果表明这种方法可能对改善MPS症状有效。MPS中自噬变化的机制仍然不清楚，自噬激活和清除存储材料的效率还有待进一步研究。这些问题在本文中进行了总结和讨论。