Murine mucopolysaccharidosis VIL: impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease.
Murine mucopolysaccharidosis VIL: impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease.
复制标题
鼠粘多糖贮积症 VIL：治疗对溶酶体贮积病模型表型、临床病程和病理学的影响。
DOI：
10.1007/s10024001-0079-1
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Sly,WS
中科院分区：
文献类型：
--
作者：
Vogler,C;Barker,J;Sands,MS;Levy,B;Galvin,N;Sly,WS
粘多糖贮积症是一组由糖胺聚糖正常降解所需的酶缺乏引起的溶酶体贮积病。粘多糖沉积症患者通常有广泛的溶酶体沉积、骨骼和中枢神经系统疾病以及肝脾肿大。一些粘多糖病患者可能会从酶替代疗法或骨髓移植中受益。粘多糖样沉积症的动物模型已被证明对评价溶酶体贮积病患者的潜在治疗有效性有价值。MPS VII（Sly综合征）的鼠模型已被证明特别有用，因为其明确的遗传学及其充分表征的临床、病理和生化改变，与粘多糖样沉积症患者中观察到的相似。这些改变的纠正形成了评价新治疗有效性的基础。广泛的治疗已经使用这种模型进行了测试，包括酶替代疗法，骨髓，干细胞和神经祖细胞移植，以及各种病毒介导的基因疗法。从使用鼠MPS VII模型的这些治疗研究中得出的推论可能可推广到其他溶酶体贮积病。
The mucopolysaccharidoses are a group of lysosomal storage diseases caused by deficiency of an enzyme required for the normal degradation of glycosaminoglycans. Patients with mucopolysaccharidosis typically have widespread lysosomal storage, skeletal and central nervous system disease, and hepatosplenomegaly. Some patients with mucopolysaccharidosis may benefit from enzyme replacement therapy or bone marrow transplantation. Animal models of mucopolysaccharidosis have proven valuable for the evaluation of the effectiveness of potential treatments for patients with lysosomal storage disease. A murine model of MPS VII (Sly syndrome) has proven particularly useful because of its well-defined genetics and its well-characterized clinical, pathologic, and biochemical alterations, which resemble those seen in patients with mucopolysaccharidosis. Correction of these alterations forms the basis for evaluation of the effectiveness of novel treatments. A wide range of therapies have been tested using this model, including enzyme replacement therapy, bone marrow, stem cell, and neural progenitor cell transplantation, and a variety of viral-mediated gene therapies. The inferences drawn from these therapeutic studies using the murine MPS VII model are likely generalizable to other lysosomal storage diseases.