申请人:The University of Tokyo
公开号:EP2047848A1
公开(公告)日:2009-04-15
An object of the present invention is to provide compounds having read-through activity for use in treatment methods of genetic diseases caused by nonsense mutation, to provide pharmaceutical compositions comprising the compound, and to provide a treatment method of genetic diseases caused by nonsense mutation comprising administering the compound.
The present invention can provide a method of producing wild type normal protein in a living body of a mammal from a gene with a premature termination codon being generated by a mutation, wherein the method comprises administering a compound expressed by the following formula (VI):
(wherein R1, R2, R3, R4, R5 and X1 in the formula are as defined in description) or the like to the mammal.
本发明的目的是提供具有通读活性的化合物,用于由无义突变引起的遗传疾病的治疗方法,提供包含该化合物的药物组合物,以及提供由无义突变引起的遗传疾病的治疗方法,包括施用该化合物。
本发明可提供一种在哺乳动物的活体内从突变产生的具有过早终止密码子的基因中产生野生型正常蛋白质的方法,其中该方法包括施用下式(VI)表达的化合物:
(其中式中的R1、R2、R3、R4、R5和X1如描述中所定义)或类似物给哺乳动物服用。