Muscle pathology in dysferlin deficiency
Muscle pathology in dysferlin deficiency
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DOI：
10.1046/j.1365-2990.2002.00417.x
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发表时间：
2002-12-01
影响因子：
5
通讯作者：
Angelini, C
中科院分区：
文献类型：
--
作者：
Fanin, M;Angelini, C
Dysferlin缺乏症在肢带营养不良和远端肌病中越来越被认识到，但其在肌肉病理学发展中的作用仍然知之甚少。为此目的，26个肌肉活检25 dysferlin病患者进行了分析，通过常规组织化学和免疫组化与8种不同的抗体，并评分炎症反应和类型的细胞浸润，纤维变性和再生，纤维类型的组成和严重程度的组织病理学变化。在与先进阶段的营养不良模式的情况下，我们观察到1型纤维优势超过80%，这表明2型纤维或转换process.The的选择性损失肌纤维再生和变性dysferlin病的程度是中间的肌聚糖病和杜氏营养不良或肌炎，这表明一个相当积极的过程中的疾病。在我们的大多数患者（16/26）中观察到炎症反应增加，这些患者也表现出活动性营养不良模式。细胞浸润的类型和位置表明炎症反应继发于坏死。主要组织相容性复合体（MHC）I类分子在dysferlin病中过度表达，主要与纤维吞噬作用和再生有关;它们在非坏死纤维中的偶尔表达可能代表正在进行的坏死的标志物。肌肉炎症可能是由dysferlin缺陷引起的膜结构改变引发的。
Dysferlin deficiency is being increasingly recognized in limb-girdle dystrophy and distal myopathy but its role in the development of muscle pathology is still poorly understood. For this purpose, 26 muscle biopsies from 25 dysferlinopathy patients were analysed by routine histochemistry and by immunohistochemistry with eight different antibodies, and scored for inflammatory response and type of cell infiltrate, fibre degeneration and regeneration, fibre type composition and severity of histopathological changes. In cases with an advanced-stage dystrophic pattern we observed type 1 fibre predominance exceeding 80%, suggesting a selective loss of type 2 fibres or a conversion process.The extent of muscle fibre regeneration and degeneration in dysferlinopathy was intermediate between sarcoglycanopathy and Duchenne dystrophy or myositis, suggesting a rather aggressive course of the disease. An increased inflammatory response was observed in the majority of our patients (16/26), who also showed an active dystrophic pattern. Type and localization of cellular infiltrates suggest that inflammatory reaction is secondary to necrosis. Major histocompatibility complex (MHC) class I molecules were overexpressed in dysferlinopathy, mainly in association with fibre phagocytosis and regeneration; their occasional expression in non-necrotic fibres might represent a marker of ongoing necrosis. Muscle inflammation might be triggered by the structurally altered membrane consequent to dysferlin defect.