Brady Roscoe O
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1260, USA.
Annu Rev Med. 2006;57:283-96. doi: 10.1146/annurev.med.57.110104.115650.
Following the demonstration of the nature of the enzymatic defects in the sphingolipid storage disorders in the mid-1960s, consideration was directed to the development of therapy for patients with these conditions. High on the list of possibilities was enzyme supplementation or replacement. Many years of arduous investigation and the development of novel protein targeting strategies were required to bring this concept to fruition. Enzyme replacement therapy (ERT) was eventually shown to be extraordinarily effective for patients with Gaucher disease, the most prevalent metabolic storage disorder of humans. Demonstration of the benefit of ERT in this disorder led to the extension of this approach to the treatment of other lysosomal storage disorders. This review presents the current status and anticipated developments in this field.
在20世纪60年代中期证实了鞘脂贮积症中酶缺陷的本质之后,人们开始考虑为患有这些病症的患者开发治疗方法。酶补充或替代在众多可能性中排在前列。需要多年的艰苦研究和新型蛋白质靶向策略的开发才能使这一概念得以实现。酶替代疗法(ERT)最终被证明对戈谢病患者非常有效,戈谢病是人类最常见的代谢性贮积症。ERT在这种疾病中的益处的证明导致了这种方法扩展到其他溶酶体贮积症的治疗。本综述介绍了该领域的现状和预期发展。