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filingDate 1993-10-20-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c234bd0a8a1378981950621525e2ea02
publicationDate 1994-04-28-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-9409162-A1
titleOfInvention Detection of mitochondrial dna mutations associated with alzheimer's disease and parkinson's disease
abstract This invention provides a method of diagnosing or predicting a predisposition to Alzeimer's disease and/or Parkinson's disease. The method comprises detecting in a sample from a subject the presence of a mutation, for example, in nucleotide position 4,336, 3,397, 3,196 or an insertion between positions 956 and 965, of mitochondrial DNA. The presence of the mutation indicates the presence of or a predisposition to Alzeimer's disease. Since each mutation increases the likelihood of developing or having Alzeimer's disease, the detection of more than one of the mutations in an individual can increase the probability of having or developing the disease. The invention also provides a method of determining mutations associated with the presence of or predisposition to Alzeimer's and/or Parkinson's disease. The method comprises: a) obtaining a mitochondrial DNA-containing sample from a subject with Alzeimer's disease; b) determining the presence of mutations in the mitochondrial DNA; c) comparing the mutations found in normal subject; and d) determining which mutations have a greater rate of occurence in the subject with Alzeimer's disease.
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