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首页 > 医学词汇大全 > Muscular Dystrophy
Muscular Dystrophy

骨科

关键词骨科 疾病 神经性疾病

词汇介绍

拓展阅读

解析

Dystrophy 英 /'dɪstrəfɪ/ 美 /'dɪstrəfi/

释义   n. 营养障碍;营养失调

例句   People with myotonic dystrophy have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use.

强直性肌营养不良病患具长期肌肉拉紧(肌强直)和在使用后无法放松某些肌肉。

概述

一、疾病概述或定义脊髓延髓肌肉萎缩症(SBMA)又称Kennedy病或遗传性迟发性近端脊髓延髓运动神经元病,为一种少见的x连锁隐性遗传病。发病率约为1/50000。在芬兰的西部及日本的一些地区较常见。至今国内只有数例临床的SBMA病例报告。仍未见基因诊断的病例报道。 二、病因及发病机制脊髓延髓肌肉萎缩症(SBMA)为一种少见的x连锁隐性遗传病。SBMA和x染色体脆性综合征一起被最早证实为三核苷酸重复序列的扩增所致,属于动态突变遗传病。SBMA是位于Xq11~12的雄性激素受体基因1号外

Therapeutic developments for Duchenne muscular dystrophy复制标题

杜氏肌营养不良症的治疗进展

发表时间:2019-07-15

影响因子:20.3

作者: Verhaart I

期刊:Nat Rev Neurol

Because DMD pathology is caused by the lack of functional dystrophin, restoring the function or expression of dystrophin is an obvious therapeutic approach. Dystrophin-targeted gene therapies can be devised to act at the DNA, pre-mRNA or mRNA levels (Fig. 1; Table 1). However, DMD poses several challenges to genetic therapies. First, the target tissue, muscle, is highly abundant and makes up 30–40% of our body mass. The human body has >500 different skeletal muscles, almost all of which are affected by DMD. Furthermore, muscle is a postmitotic tissue, and muscle fibres and fibre bundles are surrounded by layers of connective tissue that hinder the delivery of expression vectors such as stem cells and viral particles. Second, the loss of muscle tissue and function starts from a very early age and is, as yet, irreversible. Therefore, although restoration of dystrophin expression is anticipated to slow down or even halt the progression of DMD, it will not restore any muscle tissue that has already been lost. Even genetic therapies that result in expression of high amounts of functional dystrophin are not anticipated to be curative when given to a patient who has already lost a substantial part of his muscle tissue and function. As such, early intervention is essential.

译文

由于DMD病理学是由缺乏功能性肌营养不良蛋白引起的,因此恢复肌营养不良蛋白的功能或表达是一种明显的治疗方法。可以设计抗肌萎缩蛋白靶向基因疗法以在DNA,前mRNA或mRNA水平起作用(图1;表1)。然而,DMD对遗传疗法提出了若干挑战。首先,目标组织,肌肉,非常丰富,占我们体重的30-40%。人体有超过500种不同的骨骼肌,几乎所有骨骼肌都受到DMD的影响。此外,肌肉是有丝分裂后的组织,肌肉纤维和纤维束被结缔组织层包围,阻碍表达载体如干细胞和病毒颗粒的递送。其次,肌肉组织和功能的丧失从很小的时候开始,并且是不可逆转的。因此,尽管肌营养不良蛋白表达的恢复预计会减缓甚至停止DMD的进展,但它不会恢复任何已经丢失的肌肉组织。甚至导致大量功能性肌营养不良蛋白表达的遗传疗法在给予已经失去其大部分肌肉组织和功能的患者时也不会有疗效。因此,早期干预至关重要。