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

:对于因糖原降解溶酶体酶酸性α-葡萄糖苷酶(GAA)缺乏而导致的致命性心肌病和骨骼肌肌病的庞贝病患者,酶替代疗法(ERT)成为现实。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,但对骨骼肌则无效。先前我们已经证明了GAA基因敲除小鼠(KO)的抗治疗性肌肉中的溶酶体降解途径(自噬)受到严重干扰。我们的发现在这里表明,随着KO中多个肌肉群中糖原填充溶酶体的增加,渐进性的年龄依赖性自噬逐渐增强。沿内吞途径的治疗性酶运输和加工似乎受到自噬的影响。暴露于荧光标记的rhGAA的活单肌纤维的共聚焦显微镜检查表明,KO中内吞酶的很大一部分以部分加工的形式被捕获在自噬区,而不是到达其靶标-溶酶体。类似地,液相吞噬标记物被错误定位并积聚在自噬区域内的囊泡结构中。这些发现可以解释为什么ERT通常不能逆转疾病过程,并为药物治疗的发展指明了新的途径。

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