Mucolipidosis ; Pathological analysis and development of therapy

粘脂病是一种溶酶体储存性疾病，其主要的溶酶体酶向溶酶体的转运受到影响，但其细胞病理机制尚不清楚。一些溶酶体疾病的治疗方法如酶替代疗法尚未确立。在这项研究中，我们旨在阐明患者皮肤成纤维细胞的细胞病理学，并发现新的病理学。我们还分析了用NH4Cl从正常细胞中提取的混合溶酶体酶的细胞效应，证实了多种细胞效应。

Mucolipidosis is one of the lysosomal storage diseases that the transport of most of the lysosomal enzymes to the lysosome is affected, however the cellular pathology of the disease is not elucidated. And the treatment such as enzyme replacement therapy for some lysosomal diseases is not established. On this research we aimed to clarify the cellular pathology in the patient skin fibroblasts and found new pathology. We also analyzed the cellular effect of the mixed lysosomal enzymes which are extracted from the normal cells with NH4Cl, and the many cellular effects were proved.