Hormos Medical Oy Ltd.

Matti Uusitupa

Markku Koulu

Matti Karvonen

Ullamari Pesonen

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Y (preproNPY) where the leucine amino acid in position 7 of the signal peptide part of said preproNPY has been replaced by proline.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 or the mutant signal peptide associated with any other cleavage product of preproNPY, methods for the determination, in a biological sample, of the DNA sequence or the 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. The present invention also relates to transgenic animals carrying either the mutant sequence or the normal sequence.

DNA molecule encoding a mutant prepro-neuropeptide Y, a mutant signal peptide, and uses thereof

The invention relates to methods for diagnosing a person's susceptibility for having an increased risk for the development of atherosclerosis and a diabetic person's susceptibility for having an increased risk for the development of diabetic retinopathy. The invention relates further to methods for treating persons diagnosed for having increased risk for the development of said diseases, in order to prevent the development of said diseases. The invention also concerns methods to investigate or screen pharmaceuticals or genetic aims useful in the treatment of said diseases, by using an animal model including a transgenic animal.

Diagnosis of a person's risk of developing atherosclerosis or diabetic retinopathy based on leucine 7 to proline 7 polymorphism in the prepro-neuropeptide Y gene

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Y (PreproNPY) where the leucine amino acid in position 7 of the signal peptide part of said preproNPY has been replaced by proline.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.

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Kuopio, Finland

Matti Uusitupa