肌糖蛋白病的先进治疗方法

IF 4 3区 医学 Q1 PHARMACOLOGY & PHARMACY
Martina Scano, Alberto Benetollo, Francesco Dalla Barba, Dorianna Sandonà
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引用次数: 0

摘要

肌糖蛋白病是一种罕见的常染色体隐性遗传病,属于肢腰肌营养不良症家族。它们是由α-、β-、γ-和δ-肌糖蛋白的编码基因突变引起的。突变会影响一个关键结构复合物的组装,而该复合物通常能保护横纹肌的肌浆膜免受来自收缩的压力。尽管存在差异,但肌球蛋白病的特征是肌肉进行性退化、血清肌酸激酶水平升高、通常在青春期丧失行动能力以及不同程度的心肺功能损害。基因缺陷会影响肌球蛋白的合成或产生折叠缺陷的蛋白质。目前还没有有效的治疗方法;不过,基因替代策略和基于小分子的方法都显示出巨大的前景,并已进入或开始进入临床试验阶段。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Advanced therapeutic approaches in sarcoglycanopathies

Advanced therapeutic approaches in sarcoglycanopathies

Sarcoglycanopathies are rare autosomal recessive diseases belonging to the family of limb-girdle muscular dystrophies. They are caused by mutations in the genes coding for α-, β-, γ-, and δ-sarcoglycan. The mutations impair the assembly of a key structural complex, which normally protects the sarcolemma of striated muscle from contraction-derived stress. Although heterogeneous, sarcoglycanopathies are characterized by progressive muscle degeneration, increased serum creatine kinase levels, loss of ambulation often during adolescence, and variable cardio-respiratory impairment. Genetic defects can impair sarcoglycan synthesis or produce a protein that is defective in folding. There is currently no effective treatment available; however, both gene replacement strategy and small molecule-based approaches show great promise and have entered or are starting to enter clinical trials.

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来源期刊
CiteScore
8.80
自引率
2.50%
发文量
131
审稿时长
4-8 weeks
期刊介绍: Current Opinion in Pharmacology (COPHAR) publishes authoritative, comprehensive, and systematic reviews. COPHAR helps specialists keep up to date with a clear and readable synthesis on current advances in pharmacology and drug discovery. Expert authors annotate the most interesting papers from the expanding volume of information published today, saving valuable time and giving the reader insight on areas of importance.
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