Sleeper Meg M, Haskins Mark E, Ponder Katherine P
Department of Clinical Studies, University of Pennsylvania Veterinary School, Philadelphia.
Department of Pathobiology, University of Pennsylvania Veterinary School, Philadelphia.
Heart Metab. 2008;41:21-24.
Cardiac disease causes morbidity in several lysosomal storage diseases, which are the result of deficient activity of lysosomal enzymes. Mucopolysaccharidosis (MPS) causes aortic and valvular disease, Pompe disease causes cardiac muscle weakness, and Fabry disease causes left ventricular hypertrophy. Enzyme replacement therapy involves intravenous injection of enzyme modified with mannose 6-phosphate, which can be taken up by cells, and is currently approved for some lysosomal storage diseases. Gene therapy can result in secretion of mannose 6-phosphate-modified enzyme into blood, from where it can; similarly, be taken up by cells. Gene therapy has been effective in animal models of lysosomal storage disease, and holds great promise.
心脏病在几种溶酶体贮积病中会引发发病情况，这些疾病是溶酶体酶活性不足的结果。黏多糖贮积症（MPS）会导致主动脉和瓣膜疾病，庞贝病会导致心肌无力，法布里病会导致左心室肥厚。酶替代疗法涉及静脉注射用6-磷酸甘露糖修饰的酶，这种酶能够被细胞摄取，目前已被批准用于某些溶酶体贮积病。基因疗法可使6-磷酸甘露糖修饰的酶分泌到血液中，细胞同样能够从血液中摄取该酶。基因疗法在溶酶体贮积病的动物模型中已取得成效，且前景广阔。
