Detection of mitochondrial DNA mutations associated with Alzheim

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 912, 435 9152, 935 77, 935 78, C12Q 168, C12P 1934

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054947944

ABSTRACT:
This invention provides a method of Alzheimer'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 Alzheimer's and Parkinson's disease. Since each mutation increases the likelihood of developing or having Alzheimer's and Parkinson'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 Alzheimer's and/or Parkinson's disease. The method comprises:
(a) obtaining a mitochondrial DNA-containing sample from a subject with Alzheimer's and Parkinson's disease;
(b) determining the presence of mutations in the mitochondrial DNA;
(c) comparing the mutations to mutations found in a normal subject; and
(d) determining which mutations have a greater rate of occurrence in the subject with Alzheimer's and Parkinson's disease.

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Fu-Hai Lin et al., "Detection of Point Mutations in Codon 331 of Mitochondrial NADH Dehydrogenase Subunit 2 in Alzheimer's Brains," Biochemical and Biophysical Research Communications 182:238-246.
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