Study for the clinical features and the pathomechanism of autophagic systems in autophagic vacuolar myopathy

自噬空泡性肌病（AVM）是一种非常罕见的进行性肌肉疾病，其病理特征是肌纤维中存在独特的自噬空泡。AVM的病因和病理机制尚未明确。为了进一步了解，我们在日本进行了病理研究和全国范围的AVM调查。我们鉴定了50例AVM患者，并阐明了AVM的临床特征，其特点是致死性心肌病和骨骼肌病。我们的结果表明，除了自噬/溶酶体途径外，内体途径也被激活。因此，我们认为这两种途径可能与AVM中肌纤维的退行性过程有关。

Autophagic vacuolar myopathy (AVM) is a very rare progressive muscle disease defined pathologically by the presence of unique autophagic vacuoles inmuscle fibers. The etiology and the pathomechanism of AVM remain unestablished. To gain insights, we performed pathological study and performed a nationwide survey of AVM in Japan. We identified about 50 patients with AVM and elucidated the clinical features of AVM, characterized by lethal cardiomyopathy and skeletal myopathy. Our results indicated that in addition to autophagic/lysosomal pathway, endosomal pathway was also activated. Therefore, we considered that these both pathways may be associated with the degenerative process of muscle fibers in AVM.