Cytochrome oxidase mutations aiding diagnosis of sporadic alzheimer's disease
AssigneeMitoKor
InventorsW. Davis Parker, Corinna Herrnstadt
Life of this patent
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Abstract
The present invention relates to genetic mutations in mitochondrial cytochrome oxidase genes that segregate with Alzheimer's disease (AD). The invention provides methods for detecting such mutations, as a diagnostic for Alzheimer's Disease, either before or after the onset clinical symptoms. The invention further provides treatment of cytochrome oxidase dysfunction.
Claims16
A method for aiding diagnosis of the presence of or screening for the risk of sporadic Alzheimer's disease in a subject, comprising the steps of:
- a) obtaining a biological sample containing mitochondria from said subject;
- and
- b) determining the presence of at least one mutation in the sequence of a mitochondrial cytochrome oxidase gene obtained from said biological sample, wherein said at least one mutation correlates with the presence or risk of Alzheimer's disease.
A method of determining the genetic mutations which are correlated with a predisposition to sporadic Alzheimer's disease, comprising the steps of:
- a) determining the sequence of mitochondrial cytochrome oxidase genes from subjects known to have Alzheimer's disease;
- b) comparing said sequence to that of known wildtype mitochondrial cytochrome oxidase genes;
- and
- c) identifying recurrent genetic mutations in the cytochrome oxidase germ in said subjects which correlate with said predisposition.
Dependencies are inferred from the claim text.