Sarcoglycanopathies.
Sarcoglycanopathies.
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DOI：
10.1016/b978-0-08-045031-5.00003-7
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发表时间：
2011-01-01
影响因子：
--
通讯作者：
Lochmuller, Hanns
中科院分区：
文献类型：
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作者：
Kirschner, Janbernd;Lochmuller, Hanns
所谓的肌聚糖病形成由α-、β-、γ-和δ-肌聚糖基因突变引起的四种遗传上密切相关的常染色体隐性肢带型肌营养不良症（LGMD 2C-F）的亚组。所有四种肌聚糖都是糖基化的跨膜蛋白，并形成四聚体复合物，其是肌营养不良蛋白相关蛋白的一部分。与肌聚糖病相关的临床表型的特征是在大多数情况下在儿童期发作的缓慢进行性近端肌无力。病程通常与X连锁杜氏肌营养不良症相似，但变化更大。诊断通常是基于肌肉活检结果，确认营养不良的变化和缺乏一个或多个肌聚糖蛋白。基因检测用于确诊。人们已经开发了许多不同的动物模型来研究肌聚糖的功能并开发基因转移等特定的治疗策略，但迄今为止这些技术都没有进入临床实践。因此，治疗是对症的，旨在改善疾病的运动、呼吸和心脏表现。
The so-called sarcoglycanopathies form a subgroup of four genetically closely related autosomal recessive limb-girdle muscular dystrophies (LGMD2C-F) caused by mutations of the alpha-, beta-, gamma-, and delta-sarcoglycan genes. All four sarcoglycans are glycosylated transmembrane proteins and form a tetrameric complex that is part of dystrophin-associated proteins. The clinical phenotype associated with sarcoglycanopathies is characterized by a slowly progressive proximal muscle weakness with onset during childhood in most cases. The disease course is often similar but more variable than X-linked Duchenne muscular dystrophy. Diagnosis is usually based on muscle biopsy findings that confirm dystrophic changes and deficiency of one or more sarcoglycan proteins. Genetic testing is used to confirm the diagnosis. A number of different animal models have been developed to study the function of sarcoglycans and to develop specific therapeutic strategies such as gene transfer, but so far none of these techniques has entered clinical practice. Therefore, treatment is symptomatic and aims at amelioration of locomotor, respiratory, and cardiac manifestations of the disease.