肌糖蛋白病的先进治疗方法

IF 4 3区 医学 Q1 PHARMACOLOGY & PHARMACY Current Opinion in Pharmacology Pub Date : 2024-05-06 DOI:10.1016/j.coph.2024.102459
Martina Scano, Alberto Benetollo, Francesco Dalla Barba, Dorianna Sandonà
{"title":"肌糖蛋白病的先进治疗方法","authors":"Martina Scano,&nbsp;Alberto Benetollo,&nbsp;Francesco Dalla Barba,&nbsp;Dorianna Sandonà","doi":"10.1016/j.coph.2024.102459","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":50603,"journal":{"name":"Current Opinion in Pharmacology","volume":null,"pages":null},"PeriodicalIF":4.0000,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1471489224000298/pdfft?md5=796d4540be847c3a29a21c32b5e60938&pid=1-s2.0-S1471489224000298-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Advanced therapeutic approaches in sarcoglycanopathies\",\"authors\":\"Martina Scano,&nbsp;Alberto Benetollo,&nbsp;Francesco Dalla Barba,&nbsp;Dorianna Sandonà\",\"doi\":\"10.1016/j.coph.2024.102459\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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.</p></div>\",\"PeriodicalId\":50603,\"journal\":{\"name\":\"Current Opinion in Pharmacology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2024-05-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1471489224000298/pdfft?md5=796d4540be847c3a29a21c32b5e60938&pid=1-s2.0-S1471489224000298-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Opinion in Pharmacology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1471489224000298\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Pharmacology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1471489224000298","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
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。

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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.
期刊最新文献
Editorial Board Role of specific CDKs in regulating DNA damage repair responses and replication stress Therapeutic innovations for geographic atrophy: A promising horizon Targeting the soluble epoxide hydrolase pathway as a novel therapeutic approach for the treatment of pain Native botulinum toxin type A vs. redesigned botulinum toxins in pain: What did we learn so far?
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1