Dna polymorphisms in sterol regulator element binding proteins

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01)

Patent

CA 2378665

The invention relates to DNA polymorphisms in sterol regulator element binding proteins (SREBP) that are characteristic of a higher risk of genetic diseases in humans such as hypercholesterolaemia. The corresponding polymorphisms, especially the polymorphisms on SREBP-1 and SREBP-2 are frequently observed in Alzheimer patients (SREBP-2). They are also characterized by a specific behavior in the therapy of HIV patients with protease inhibitors and appear to have an influence on the mortality.

La présente invention concerne des polymorphismes de protéines de fixation à un élément régulateur de stérol (SREBP) qui sont caractéristiques de maladies génétiques à risque élevé chez l'homme, telles que l'hypercholestérolémie. Les polymorphismes correspondants, notamment des polymorphismes de protéines SREBP-1 et SREBP-2, présentent également une fréquence très intéressante chez les patients atteints de la maladie d'Alzheimer (SREBP-2), un comportement spécifique lors d'une thérapie avec des inhibiteurs de protéase, appliquée à des patients atteint du VIH, ainsi qu'une influence sur la mortalité.

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