Human obesity susceptibility gene and uses thereof

Details Human obesity susceptibility gene and uses thereof Human obesity susceptibility gene and uses thereof

C - Chemistry, Metallurgy

12

N

C12N 15/54 (2006.01) A61K 31/7088 (2006.01) A61K 38/45 (2006.01) A61K 39/395 (2006.01) C07H 21/04 (2006.01) C07K 16/40 (2006.01) C12N 9/12 (2006.01) C12Q 1/48 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01)

Patent

CA 2536205

The present invention discloses the identification of a human obesity susceptibility gene, which can be used for the diagnosis, prevention and treatment of obesity and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the MAP3K11 gene on chromosome 11 and certain alleles thereof are related to susceptibility to obesity and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the MAP3K11 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and dyslipidemic hypertension.

La présente invention concerne l~identification d~un gène humain de prédisposition à l~obésité pouvant être utilisé pour le diagnostique, la prévention et le traitement de l~obésité et des troubles apparentés, ainsi que pour le criblage de médicaments thérapeutiquement actifs. L~invention concerne plus particulièrement le gène MAP3K11 sur le chromosome 11 et certains de ses allèles qui sont liés à la prédisposition à l~obésité et constituent de nouvelles cibles pour une intervention thérapeutique. La présente invention concerne des mutations particulières observées dans le gène MAP3K11 et des produits d~expression, ainsi que des outils et des trousses de dignostique tenant compte de ces mutations. L~invention peut s~utiliser pour le diagnostique de la prédisposition à, la détection, la prévention et/ou le traitement de la coronaropathie et des troubles métaboliques, notamment l~hypoalphalipoprotéinémie, l~hyperlipidémie combiné familiale, le syndrome X insulino-résistant ou les troubles métaboliques multiples, l'insuffisance coronarienne, le diabète et l~hypertension dyslipidémique.

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