College of Medical Sciences, University of Rzeszów, 35-959 Rzeszów, Poland.
Department of Clinical Genetics, College of Medical Sciences, University of Rzeszów, 35-959 Rzeszów, Poland.
Int J Mol Sci. 2022 Apr 26;23(9):4785. doi: 10.3390/ijms23094785.
Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans' abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoemulsions, are used more and more in medicine to deliver a particular drug to the target cells. It allows for creating a specific, efficient therapy method in MPS I and other lysosomal storage disorders. This article briefly presents the basics of nanoemulsions and discusses the current state of knowledge about their usage in mucopolysaccharidosis type I.
黏多糖贮积症 I 型（MPS I）是一种罕见的单基因疾病，其中糖胺聚糖的异常代谢导致硫酸乙酰肝素和硫酸皮肤素在各种组织中的储存。这会导致其损伤和功能障碍。严重型 MPS I 患者通常活不过十岁。目前，治疗方法基于多学科护理以及酶替代疗法或造血干细胞移植。应用基因疗法可能使 MPS I 患者受益，因为它克服了标准治疗的典型局限性。纳米颗粒，包括纳米乳剂，在医学中越来越多地被用于将特定药物递送到靶细胞。这使得能够在 MPS I 和其他溶酶体贮积症中创建一种特定的、有效的治疗方法。本文简要介绍了纳米乳剂的基础知识，并讨论了其在 MPS I 中的应用的现有知识状态。
