Pig model for breast cancer, mitochondria related protein...

C - Chemistry – Metallurgy – 12 – Q

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Details

C12Q 1/00 (2006.01) C12N 15/873 (2010.01) A01K 67/027 (2006.01) C12N 5/10 (2006.01) C12N 15/00 (2006.01) C12N 15/06 (2006.01) C12N 15/85 (2006.01)

Patent

CA 2717251

The present invention relates to a genetically modified pig as a model for studying breast cancer, mitochondria related protein folding disorders and/or epidermolysis bullosa simplex. The modified pig model displays one or more phenotypes associated with any of said disorders. Disclosed is also a modified pig comprising a modified endogeneous BRCA1 and/or BRCA2 gene, and/or a modified ornithine transcarbamylase gene, and/or a modified Keratin 14 gene and/or a transcriptional or translational product or part thereof. The invention further relates to methods for producing the modified pig; and methods for evaluating the effect of a therapeutical treatment of breast cancer, mitochondria related protein folding disorders and/or epidermolysis bullosa simplex; methods for screening the efficacy of a pharmaceutical composition; and a method for treatment of a human being suffering from breast cancer, mitochondria related protein folding disorders and/or epidermolysis bullosa simplex are disclosed.

La présente invention porte sur un porc génétiquement modifié en tant que modèle pour étudier le cancer du sein, les troubles de repliement des protéines apparentées aux mitochondries et/ou l'épidermolyse bulleuse simple. Le modèle porcin modifié présente un ou plusieurs phénotypes associés à l'un quelconque desdits troubles. L'invention concerne également un porc modifié comprenant un gène modifié BRCA1 et/ou BRCA2 endogène et/ou un gène modifié de l'ornithine transcarbamylase, et/ou un gène modifié de la kératine 14 et/ou un produit transcriptionnel ou traductionnel ou une partie de ceux-ci. L'invention porte en outre sur des procédés de production du porc modifié ; et sur des procédés d'évaluation de l'effet d'un traitement thérapeutique du cancer du sein, des troubles du repliement des protéines apparentées aux mitochondries et/ou de l'épidermolyse bulleuse simple ; sur des procédés de criblage de l'efficacité d'une composition pharmaceutique ; et sur un procédé de traitement d'un être humain souffrant du cancer du sein, de troubles du repliement des protéine apparentées aux mitochondries et/ou de l'épidermolyse bulleuse simple.

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