Methods and compounds for the genetic treatment of...

A - Human Necessities – 01 – N

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A01N 43/04 (2006.01) A61K 9/50 (2006.01) A61K 9/51 (2006.01) A61K 31/711 (2006.01) A61K 47/24 (2006.01) A61K 48/00 (2006.01) A61P 3/06 (2006.01) C07H 21/00 (2006.01) C07H 21/04 (2006.01) C12N 15/09 (2006.01) C12N 15/11 (2006.01) C12N 15/85 (2006.01)

Patent

CA 2320965

The present invention concerns the introduction of specific alterations in the genes that encode three apolipoproteins, Apo A1, Apo B and Apo E. The alternations in Apo A1 introduce a cysteine residue so the disulfide cross- linked Apo A1 homodimers and Apo A1/A2 heterodimers can be formed. The alterations in Apo B introduce stop codons or frame shift mutations that cause the production of a truncated Apo B protein. The alterations in Apo E introduce specific point mutations that have been identified as protective. The production in the liver of a subject of these altered proteins reduces the risk of the subjects developing atherosclerosis. In one embodiment the genetic alterations are introduced by use of chimeric, mixed RNA/DNA, duplex oligonucleotides.

Cette invention concerne l'introduction d'altérations spécifiques dans les gènes qui codent trois apolipoprotéines, Apo A1, Apo B et Apo E. Les altérations dans Apo A1 introduisent un reste de cystéine, ce qui entraîne la formation des homodimères Apo A1 à réticulation disulfure et des hétérodimères Apo A1, A2. Les altérations dans Apo B introduisent des codons de terminaison ou des mutations de décalage de cadre qui entraînent la production d'une protéine Apo B tronquée. Les altérations dans Apo E introduisent des mutations ponctuelles spécifiques ayant été identifiées comme protectrices. La production dans le foie d'un sujet de ces protéines ainsi altérées réduit le risque qu'ont ces sujets de développer une athérosclérose. Dans un mode de réalisation, ces altérations génétiques sont introduites au moyen d'oligonucléotides duplex chimériques à ARN/ADN mixtes.

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