A dna molecule encoding a mutant prepro-neuropeptide y, a...

C - Chemistry – Metallurgy – 12 – N

Patent

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Details

C12N 15/16 (2006.01) A01K 67/027 (2006.01) A61K 38/00 (2006.01) A61K 48/00 (2006.01) C07K 14/575 (2006.01) C07K 16/26 (2006.01) C12N 5/10 (2006.01) C12Q 1/60 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/92 (2006.01)

Patent

CA 2314614

The invention relates to a DNA sequence comprising a nucleotide sequence encoding a prepro-neuropeptide Y (preproNPY) where the leucine amino acid in position 7 of the signal peptide part of said preproNPY has been replaced by proline. The invention concerns further the mutant signal peptide as such or associated with any other cleavage product of preproNPY, methods for the determination, in a biological sample, of said DNA sequence or said peptide. Furthermore, this invention relates to a method for diagnosing a predisposition for increased serum cholesterol or LDL cholesterol level in a human subject, and to methods for treating a human subject diagnosed for predisposition for increased serum cholesterol or LDL cholesterol. Transgenic animals carrying either the mutant sequence or the normal sequence are also within the scope of this invention.

L'invention concerne une séquence d'ADN comprenant une séquence nucléotidique codant un prépro-neuropeptide Y (préproNPY), l'acide aminé leucine en position 7 de la partie peptide signal dudit préproNPY ayant été remplacé par une proline. L'invention concerne également le peptide signal mutant en tant que tel ou associé à tout autre produit de clivage de préproNPY, des méthodes de détection, dans un échantillon biologique, de ladite séquence d'ADN ou dudit peptide. En outre, cette invention concerne une méthode de diagnostic de la prédisposition d'un sujet humain à des taux de cholestérol sérique ou de cholestérol LDL accrus, ainsi que des méthodes de traitement d'un sujet humain chez qui l'on a diagnostiqué une prédisposition à des taux de cholestérol sérique ou de cholestérol LDL accrus. Cette invention se rapporte aussi aux animaux transgéniques portant cette séquence mutante ou la séquence normale.

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