Methods for determining risk of developing alzheimer's disease by detecting mutations in the presenilin 2 (PS-2) gene
AssigneesHSC Research and Development Limited Partnership, The Governing Council of the University of Toronto
InventorsPeter H. St. George-Hyslop, Johanna M. Rommens, Paul E. Fraser
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Abstract
The present invention describes the identification, isolation and cloning of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease. Also identified are presenilin homologue genes in mice, C. elegans and D. melanogaster. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.
Claims24
A method for determining whether a subject is at risk for development of Alzheimer's Disease (AD), the method comprising the steps of:
- (a) obtaining a nucleic acid sample from the subject;
- and
- (b) conducting an assay on the nucleic acid sample to determine the presence or absence of a presenilin 2 (PS2) gene missense mutation associated with AD, wherein the presence of a PS2 gene missense mutation associated with AD indicates that the subject is at risk for development of AD.
A method for determining whether a subject displaying neurodegenerative symptoms is suffering from AD, the method comprising the steps of:
- (a) obtaining a nucleic acid sample from the subject;
- (b) conducting an assay on the nucleic acid sample to determine the presence or absence of a presenilin 2 (PS2) gene missense mutation associated with AD, wherein the presence of a PS2 gene missense mutation associated with AD indicates that the subject is suffering from AD.
A method for determining whether a subject is free of AD associated with a mutation of the PS2 gene, the method comprising the steps of:
- (a) obtaining a nucleic acid sample from the subject;
- and
- (b) conducting an assay on the nucleic acid sample to determine the presence or absence of a PS2 gene missense mutation associated with AD, wherein the absence of a PS2 missense mutation associated with AD indicates that the subject is free of AD associated with a missense mutation of the PS2 gene.
Dependencies are inferred from the claim text.