{"title":"将基础研究发现转化为治疗亨廷顿病的挑战。","authors":"Daria Mochly-Rosen, Marie-Helene Disatnik, Xin Qi","doi":"10.4161/rdis.28637","DOIUrl":null,"url":null,"abstract":"<p><p>Huntington disease is a rare neurodegenerative disease resulting from insertion and/or expansion of a polyglutamine repeats close to the N-terminal of the huntingtin protein. Although unequivocal genetic tests have been available for about 20 years, current pharmacological treatments do not prevent or slow down disease progression. Recent basic research identified potential novel drug targets for the treatment of Huntington disease. However, there are clear challenges in translating these discoveries into treatment strategies for these patients. The following is a brief discussion of these challenges using our recent experience as an example. </p>","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"2 ","pages":"e28637"},"PeriodicalIF":0.0000,"publicationDate":"2014-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4161/rdis.28637","citationCount":"8","resultStr":"{\"title\":\"The challenge in translating basic research discoveries to treatment of Huntington disease.\",\"authors\":\"Daria Mochly-Rosen, Marie-Helene Disatnik, Xin Qi\",\"doi\":\"10.4161/rdis.28637\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Huntington disease is a rare neurodegenerative disease resulting from insertion and/or expansion of a polyglutamine repeats close to the N-terminal of the huntingtin protein. Although unequivocal genetic tests have been available for about 20 years, current pharmacological treatments do not prevent or slow down disease progression. Recent basic research identified potential novel drug targets for the treatment of Huntington disease. However, there are clear challenges in translating these discoveries into treatment strategies for these patients. The following is a brief discussion of these challenges using our recent experience as an example. </p>\",\"PeriodicalId\":74639,\"journal\":{\"name\":\"Rare diseases (Austin, Tex.)\",\"volume\":\"2 \",\"pages\":\"e28637\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-03-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.4161/rdis.28637\",\"citationCount\":\"8\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rare diseases (Austin, Tex.)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4161/rdis.28637\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2014/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare diseases (Austin, Tex.)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4161/rdis.28637","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2014/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
The challenge in translating basic research discoveries to treatment of Huntington disease.
Huntington disease is a rare neurodegenerative disease resulting from insertion and/or expansion of a polyglutamine repeats close to the N-terminal of the huntingtin protein. Although unequivocal genetic tests have been available for about 20 years, current pharmacological treatments do not prevent or slow down disease progression. Recent basic research identified potential novel drug targets for the treatment of Huntington disease. However, there are clear challenges in translating these discoveries into treatment strategies for these patients. The following is a brief discussion of these challenges using our recent experience as an example.