脊髓和延髓肌萎缩：从分子发病机制到针对骨骼肌的药物干预

IF 4 3区医学 Q1 PHARMACOLOGY & PHARMACY

Current Opinion in Pharmacology Pub Date : 2023-08-01 DOI:10.1016/j.coph.2023.102394

Caterina Marchioretti , Roberta Andreotti , Emanuela Zuccaro , Andrew P. Lieberman , Manuela Basso , Maria Pennuto

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引用次数: 0

摘要

SBMA的临床特征也被称为肯尼迪病（OMIM 313200），最初由H Kawahara博士在18世纪记录，100年后由W.Kennedy博士记录。SBMA是一种由X染色体上雄激素受体（AR）基因外显子1中CAG微卫星串联重复序列扩增引起的神经肌肉疾病。这些扩增导致AR的产生具有异常扩增的聚谷氨酰胺（polyQ）区。在这篇综述中，我们探讨了骨骼肌基因表达变化意义的最新进展，并讨论了针对疾病发病机制这一方面的药物干预措施如何可能转化为SBMA患者的治疗。

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Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle

The clinical characteristics of SBMA, also known as Kennedy's disease (OMIM 313200), were initially documented by Dr. H Kawahara in the 18th century and a hundred years later by Dr. W. Kennedy. SBMA is a neuromuscular disease caused by expansions of a CAG microsatellite tandem repeat in exon 1 of the androgen receptor (AR) gene located on the X chromosome. These expansions result in the production of AR with an aberrantly expanded polyglutamine (polyQ) tract. In this review, we explore recent advancements in the significance of gene expression changes in skeletal muscle and discuss how pharmacological interventions targeting this aspect of disease pathogenesis can potentially be translated into therapies for SBMA patients.

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来源期刊

Current Opinion in Pharmacology 医学-药学

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.