New Therapeutic Approaches to Mendelian Disorders

被引：61

作者：

Dietz, Harry C. ^{[1
]}

机构：

[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2010年 / 363卷 / 09期

关键词：

GILFORD-PROGERIA-SYNDROME; ADENOSINE-DEAMINASE DEFICIENCY; DUCHENNE MUSCULAR-DYSTROPHY; LYSOSOMAL STORAGE DISEASES; TYPE-1; GAUCHER-DISEASE; MARFAN-SYNDROME; STOP MUTATIONS; MOUSE MODEL; NONSENSE MUTATIONS; CYSTIC-FIBROSIS;

D O I：

10.1056/NEJMra0907180

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Progress in the treatment of genetic disorders has derived from insight into their causes and has focused on nutritional limitation of a substrate, the purging of a toxic metabolite, or compensatory expression of a protein whose deficiency causes disease, through gene delivery. In this review, I focus on therapeutic strategies that exploit a precise understanding of the pathogenesis of a mendelian disease, giving examples that illustrate the strengths and limitations of each approach, as well as the potential for broadening its application to the treatment of more common disorders. Copyright © 2010 Massachusetts Medical Society.

引用

页码：852 / 863

页数：12

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