Recent studies indicated that apart from lysosomal storage of glycosaminoglycans (GAGs), secondary and tertiary changes in cellular processes may significantly contribute to development of disorders and symptoms occurring in mucopolysaccharidoses (MPS), a group of lysosomal storage diseases in which neurodegeneration is specific for most types and subtypes. In this report, using transcriptomic data, we demonstrate that regulation of hundreds of genes coding for proteins involved in regulations of various cellular processes is changed in cells derived from patients suffering from all types and subtypes of MPS. Among such genes there are 10 which expression is significantly changed in 9 or more (out of 11) MPS types/subtypes; they include IER3IP1, SAR1A, TMEM38B, PLCB4, SIN3B, ABHD5, SH3BP5, CAPG, PCOLCE2, and MN1. Moreover, there are several genes whose expression is changed over log₂ > 4 times in some MPS types relative to control cells. The above analysis indicates that significant changes in expression of genes coding for various regulators of cellular processes may considerably contribute to development of cellular dysfunctions, and further appearance of specific symptoms of MPS, including neurodegeneration.

最近的研究表明，除了糖胺聚糖 (GAG) 的溶酶体储存外，细胞过程的二级和三级变化可能会显着促进粘多糖贮积症 (MPS) 的疾病和症状的发展，这是一组溶酶体贮积病，其中神经变性对大多数类型和子类型。在本报告中，我们使用转录组学数据证明，在来自患有所有类型和亚型 MPS 的患者的细胞中，对数百个编码蛋白质的基因的调控发生了改变。在这些基因中，有 10 个在 9 个或更多（11 个）MPS 类型/亚型中表达显着改变；它们包括IER3IP1、SAR1A、TMEM38B、PLCB4、SIN3B、ABHD5、SH3BP5、CAPG、PCOLCE2和MN1。此外， 相对于对照细胞，在某些 MPS 类型中，有几个基因的表达变化超过 log ₂ > 4 倍。上述分析表明，编码细胞过程的各种调节因子的基因表达的显着变化可能会显着促进细胞功能障碍的发展，并进一步出现 MPS 的特定症状，包括神经变性。