Modified human U1 snRNA molecule, gene encoding modified human U1 snRNA molecule, expression vector containing the gene and use thereof in gene therapy
A modified human U1snRNA molecule is described, the target sequence of which is located in a region of the pre-mRNA of the target gene comprised between 2 and 50 base pairs downstream of an exon/intron junction site, which is capable of restoring the correct splicing of a target gene of therapeutic interest bearing a mutation which induces exon skipping and resulting in a genetic disease. Modified human U1snRNA molecules are described by way of example for the correction of diseases associated with exon skipping, such as spinal muscular atrophy, hemophilia B, and cystic fibrosis.改変ヒトＵ１ｓｎＲＮＡ分子が記載されており、その標的配列は、エクソン／イントロン接合部位の２～５０塩基対下流に含まれる標的遺伝子のｍＲＮＡ前駆体の領域中に位置しており、これはエクソンスキッピングを誘発し結果として遺伝的疾患をもたらす変異が有る治療対象となる標的遺伝子の正しいスプライシングを回復できる。改変ヒトＵ１ｓｎＲＮＡ分子は、エクソンスキッピングと関連した疾患、たとえば脊髄性筋萎縮症、血友病Ｂおよび嚢胞性線維症の是正の一例として記載されている。【選択図】図６
