Hereditary Inclusion Body Myopathy (HIBM2).

Chris M Jay, Nick Levonyak, Gregory Nemunaitis, Phillip B Maples, John Nemunaitis
{"title":"Hereditary Inclusion Body Myopathy (HIBM2).","authors":"Chris M Jay,&nbsp;Nick Levonyak,&nbsp;Gregory Nemunaitis,&nbsp;Phillip B Maples,&nbsp;John Nemunaitis","doi":"10.4137/grsb.s2594","DOIUrl":null,"url":null,"abstract":"<p><p>Hereditary inclusion body myopathy type 2 (HIBM2) is a myopathy characterized by progressive muscle weakness with early adult onset. The disease is the result of a recessive mutation in the Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), which results in reduced enzyme function and sialic acid levels. A majority of individuals with HIBM2 are from Iranian-Jewish or Japanese decent, but isolated cases have been identified world wide. This article reviews the diagnostic criteria for HIBM2. Current research with a highlight on the biology of the disease and the role of GNE in the sialic acid pathway are assessed. Finally, therapeutic investigations and animal models are discussed with a focus on future studies to better understand the pathology of Hereditary Inclusion Body Myopathy and move therapeutic agents towards clinical trials.</p>","PeriodicalId":73138,"journal":{"name":"Gene regulation and systems biology","volume":"3 ","pages":"181-90"},"PeriodicalIF":0.0000,"publicationDate":"2009-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/grsb.s2594","citationCount":"13","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene regulation and systems biology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4137/grsb.s2594","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 13

Abstract

Hereditary inclusion body myopathy type 2 (HIBM2) is a myopathy characterized by progressive muscle weakness with early adult onset. The disease is the result of a recessive mutation in the Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), which results in reduced enzyme function and sialic acid levels. A majority of individuals with HIBM2 are from Iranian-Jewish or Japanese decent, but isolated cases have been identified world wide. This article reviews the diagnostic criteria for HIBM2. Current research with a highlight on the biology of the disease and the role of GNE in the sialic acid pathway are assessed. Finally, therapeutic investigations and animal models are discussed with a focus on future studies to better understand the pathology of Hereditary Inclusion Body Myopathy and move therapeutic agents towards clinical trials.

Abstract Image

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
遗传性包涵体肌病(HIBM2)。
遗传性包涵体肌病2型(HIBM2)是一种以进行性肌肉无力为特征的肌病,成人早期发病。该疾病是葡萄糖胺(udp - n -乙酰)-2- epimase / n -乙酰氨基甘露胺激酶基因(GNE)隐性突变的结果,导致酶功能和唾液酸水平降低。大多数HIBM2患者来自伊朗-犹太人或日本血统,但在世界范围内也发现了孤立病例。本文综述了HIBM2的诊断标准。目前的研究重点是疾病的生物学和GNE在唾液酸途径中的作用。最后,讨论了治疗研究和动物模型,重点讨论了未来的研究,以更好地了解遗传性包涵体肌病的病理,并将治疗药物推向临床试验。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Pathway-Based Analysis of the Liver Response to Intravenous Methylprednisolone Administration in Rats: Acute Versus Chronic Dosing. Temporal and Spatial Differential Expression of Glutamate Receptor Genes in the Brain of Down Syndrome Introductory Chapter: Gene Regulation, an RNA Network-Dependent Architecture Model-based Evaluation of Gene Expression Changes in Response to Leishmania Infection. Gene Activation by the Cytokine-Driven Transcription Factor STAT1
×
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