Enzyme replacement therapy (ERT) became a reality for patients with Pompe disease, a fatal cardiomyopathy and skeletal muscle myopathy caused by a deficiency of glycogen-degrading lysosomal enzyme acid alpha-glucosidase (GAA). The therapy, which relies on receptor-mediated endocytosis of recombinant human GAA (rhGAA), appears to be effective in cardiac muscle, but less so in skeletal muscle. We have previously shown a profound disturbance of the lysosomal degradative pathway (autophagy) in therapy-resistant muscle of GAA knockout mice (KO). Our findings here demonstrate a progressive age-dependent autophagic buildup in addition to enlargement of glycogen-filled lysosomes in multiple muscle groups in the KO. Trafficking and processing of the therapeutic enzyme along the endocytic pathway appear to be affected by the autophagy. Confocal microscopy of live single muscle fibers exposed to fluorescently labeled rhGAA indicates that a significant portion of the endocytosed enzyme in the KO was trapped as a partially processed form in the autophagic areas instead of reaching its target--the lysosomes. A fluid-phase endocytic marker was similarly mistargeted and accumulated in vesicular structures within the autophagic areas. These findings may explain why ERT often falls short of reversing the disease process and point toward new avenues for the development of pharmacological intervention.

译文

酶替代疗法 (ERT) 已成为Pompe病患者的现实,Pompe病是一种致命的心肌病和骨骼肌肌病,该病是由糖原降解溶酶体酶酸 α-葡萄糖苷酶 (GAA) 缺乏引起的。该疗法依赖于重组人GAA (rhGAA) 的受体介导的内吞作用,似乎对心肌有效,但对骨骼肌无效。我们以前已经显示出GAA基因敲除小鼠 (KO) 的抗药性肌肉中溶酶体降解途径 (自噬) 的严重干扰。我们在这里的发现表明,除了在KO的多个肌肉群中增加糖原填充的溶酶体外,还存在逐渐的年龄依赖性自噬积累。治疗酶沿内吞途径的运输和加工似乎受到自噬的影响。暴露于荧光标记的rhGAA的活的单根肌肉纤维的共聚焦显微镜显示,KO中很大一部分内吞酶被捕获为自噬区域中的部分加工形式,而不是达到其目标-溶酶体。类似地,液相内吞标记物被错误地捕获并积累在自噬区域内的囊泡结构中。这些发现可以解释为什么ERT经常无法逆转疾病过程,并为药物干预的发展指明了新的途径。

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