Autophagic Vacuoles with Sarcolemmal Features Delineate Danon Disease and Related Myopathies
Autophagic Vacuoles with Sarcolemmal Features Delineate Danon Disease and Related Myopathies
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DOI：
10.1097/01.jnen.0000166130.35907.14
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发表时间：
2005-06
期刊：
影响因子：
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通讯作者：
K. Sugie;S. Noguchi;Y. Kozuka;E. Arikawa-Hirasawa;Mikihito Tanaka;Chuanzhu Yan;P. Saftig;K. von Figura;M. Hirano;S. Ueno;I. Nonaka;I. Nishino
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文献类型：
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作者：
K. Sugie;S. Noguchi;Y. Kozuka;E. Arikawa-Hirasawa;Mikihito Tanaka;Chuanzhu Yan;P. Saftig;K. von Figura;M. Hirano;S. Ueno;I. Nonaka;I. Nishino
在自噬空泡肌病(AVM)中，一个亚型的病理特征是具有肌膜特征的异常自噬空泡(AVSF)，包括Danon病和伴有过度自噬的X连锁肌病。AVSF在不同类型的AVMS中的诊断价值和详细的形态特征尚不清楚，AVSF的形成机制也不清楚。为了解决这些问题，我们对动静脉动静脉畸形和其他动静脉畸形的肌病进行了详细的组织学研究。在Danon病和相关的Avms中，光镜下自噬空泡似乎是溶酶体的堆积，在电子显微镜下，溶酶体由成簇的自噬空泡组成，表明自溶酶体。一些自溶酶体被含有肌膜蛋白、乙酰胆碱酯酶活性和基底膜的膜包裹。在Danon病中，AVSF的纤维数量随着年龄的增长呈线性增加，而有自溶酶体堆积的纤维数量略有减少，这表明AVSF的产生是对自溶酶体的继发性反应。大多数AVSF形成封闭的间隙，表明空泡膜可能是在原位形成的，而不是通过肌膜凹陷形成的。这种独特的胞质内膜结构在其他动静脉畸形中是不存在的。综上所述，具有乙酰胆碱酯酶活性的AVSF是被二次生成的胞浆内肌膜样结构包围的自溶酶体，并描述了Avms的一个亚群。
Among the autophagic vacuolar myopathies (AVMs), a subgroup is characterized pathologically by unusual autophagic vacuoles with sarcolemmal features (AVSF) and includes Danon disease and X-linked myopathy with excessive autophagy. The diagnostic importance and detailed morphologic features of AVSF in different AVMs have not been well established, and the mechanism of AVSF formation is not known. To address these issues, we have performed detailed histologic studies of myopathies with AVSF and other AVMs. In Danon disease and related AVMs, at the light microscopic level, autophagic vacuoles appeared to be accumulations of lysosomes, which, by electron microscopy consisted of clusters of autophagic vacuoles, indicative of autolysosomes. Some autolysosomes were surrounded by membranes with sarcolemmal proteins, acetylcholinesterase activity, and basal lamina. In Danon disease, the number of fibers with AVSF increased linearly with age while the number with autolysosomal accumulations decreased slightly, suggesting that AVSF are produced secondarily in response to autolysosomes. Most of the AVSF form enclosed spaces, indicating that the vacuolar membranes may be formed in situ rather than through sarcolemmal indentation. This unique intracytoplasmic membrane structure was not found in other AVMs. In conclusion, AVSF with acetylcholinesterase activity are autolysosomes surrounded by secondarily generated intracytoplasmic sarcolemma-like structure and delineates a subgroup of AVMs.