Mutations in the diabetes susceptibility genes hepatocyte...

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01) A61K 38/17 (2006.01) A61K 48/00 (2006.01) C07K 14/47 (2006.01) C12N 15/12 (2006.01) C12N 15/85 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2265480

The present invention relates generally to the fields diabetes. More particularly, it concerns the identification of genes responsible for NIDDM for use in diagnostics and therapeutics. The present invention demonstrates that the MODY3 locus is, in fact, the HNF-1.alpha. gene, MODY4 locus is the HN- F1.beta. and the MODY1 locus is the HNF-4.alpha. gene. The invention further relates to the discovery that analysis of mutations in the HNF-1.alpha., HNF- 1.beta. and HNF-4.alpha. genes can be diagnostic for diabetes. The invention also contemplates methods of treating diabetes in view of the fact that HNF- 1.alpha., HNF-1.beta. and HNF-4.alpha. mutations can cause diabetes.

La présente invention se rapporte de manière générale au domaine du diabète et concerne plus particulièrement l'identification des gènes responsables du diabète non insulino-dépendant, destinée à des fins diagnostiques et thérapeutiques. L'invention démontre que le locus du diabète 3 de la maturité chez les jeunes (MODY3) est, en fait, le gène HNF-1.alpha., celui de MODY4 est le gène HNF-1.beta. et celui de MODY1 est le gène HNF-4.alpha.. En outre, l'invention se rapporte à la découverte selon laquelle l'analyse des mutations dans les gènes HNF-1.alpha., HNF-1.beta. et HNF-4.alpha. peut permettre de diagnostiquer le diabète. L'invention envisage également des méthodes de traitement du diabète sur la base du fait que les mutations des gènes HNF-1.alpha., HNF-1.beta. et HNF-4.alpha. peuvent causer le diabète.

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