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杜氏肌营养不良症的发病机制:实验观察的意义

The pathogenesis of Duchenne muscular dystrophy: significance of experimental observations.

作者信息

Elbrink J, Malhotra S K

出版信息

Med Hypotheses. 1985 Aug;17(4):375-85. doi: 10.1016/0306-9877(85)90096-9.

DOI:10.1016/0306-9877(85)90096-9
PMID:4046906
Abstract

The pathogenesis of Duchenne muscular dystrophy (DMD) remains elusive, but as this is an inherited condition the primary manifestation of the disease is assumed to be in the regulatory control or biosynthesis of a protein. Current hypotheses attribute the pathological state of skeletal muscle in DMD to a defect in the nerve supply, or in the vasculature, or in the muscle itself. However, various tissues other than skeletal muscle are also affected; thus the current view of DMD requires reevaluation. The following possibilities should be considered: That the primary lesion is expressed in one of the major communication systems (nervous, vascular, or endocrine). That the primary lesion is expressed in a specific tissue: a) if in skeletal muscle, alterations in non-muscular tissues must be due to the release of muscle constituents into extracellular fluid; b) if in a non-muscular tissue, this might produce too much (or too little or none) of a constituent normally secreted into the extracellular fluid, or produce a "toxic" agent. That the primary lesion is expressed in a wide variety of tissues: the effect on a particular tissue will depend entirely upon the degree of requirement of the altered protein for function.

摘要

杜氏肌营养不良症(DMD)的发病机制仍不清楚,但由于这是一种遗传性疾病,该疾病的主要表现被认为存在于一种蛋白质的调控或生物合成过程中。目前的假说将DMD中骨骼肌的病理状态归因于神经供应、血管系统或肌肉本身的缺陷。然而,除骨骼肌外的各种组织也会受到影响;因此,目前对DMD的观点需要重新评估。应考虑以下几种可能性:原发性病变表现在主要通讯系统(神经、血管或内分泌)之一中。原发性病变表现在特定组织中:a)如果在骨骼肌中,非肌肉组织的改变必定是由于肌肉成分释放到细胞外液中;b)如果在非肌肉组织中,这可能会产生过多(或过少或没有)通常分泌到细胞外液中的成分,或者产生一种“毒性”物质。原发性病变表现在多种组织中:对特定组织的影响将完全取决于功能改变的蛋白质的需求程度。

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The pathogenesis of Duchenne muscular dystrophy: significance of experimental observations.杜氏肌营养不良症的发病机制:实验观察的意义
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