Test and model for alzheimer's disease

Abstract

The invention provides an isolated nucleic acid characteristic of human amyloid precursor protein 770 including the nucleotides encoding codon 670 and 671, wherein the nucleic acid encodes an amino acid other than lysine at codon 670 and/or an amino acid other than methionine at codon 671. Also provided is a method of diagnosing or predicting a predisposition to Alzheimer's disease, comprising detecting in a sample from a subject the presence of a mutation at a nucleotide position corresponding to codons 670 and/or 671 of amyloid precursor protein or fragment thereof, the presence of the mutation indicating the presence of or a predisposition to Alzheimer's disease.

1 - 32 . (canceled) 
     
     
         33 . A method of diagnosing or predicting a predisposition to Alzheimer's disease in a subject, comprising detecting in a sample from a subject the presence of a mutation in a nucleic acid encoding human amyloid precursor protein (APP) including the nucleotides encoding codons 670 and 671 of human APP 770, or encoding the codons corresponding to these in other isoforms of APP, operably linked to a promoter, wherein the nucleic acid encodes an amino acid other than lysine at codon 670 and/or an amino acid other than methionine at codon 671 and, wherein the subject expresses a human APP or fragment thereof which has an amino acid other than lysine at codon 670 and/or an amino acid other than methionine at codon 671, whereby detecting the presence of the mutation diagnoses or predicts a predisposition to Alzheimer's disease in the subject. 
     
     
         34 . The method of  claim 33 , wherein codon 670 of the nucleic acid encodes asparagines and codon 671 of the nucleic acid encodes leucine. 
     
     
         35 . The method of  claim 33 , wherein the detecting step comprises combining a nucleotide probe capable of selectively hybridizing to a nucleic acid containing the mutation with a nucleic acid in the sample and detecting the presence of hybridization. 
     
     
         36 . The method of  claim 33 , wherein the detecting step comprises amplifying the nucleotides of the mutation and detecting the presence of the mutation in the amplified product. 
     
     
         37 . The method of  claim 33 , wherein the detecting step comprises selectively amplifying the nucleotides of the mutation and detecting the presence of amplification. 
     
     
         38 . The method of  claim 33 , wherein the detecting step comprises detecting the loss of a restriction fragment length created by an MboII enzyme digest of the nucleotides of the mutation.