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US 5,976,798 AGranted
Methods for detecting mitochondrial mutations diagnostic for Alzheimer's disease and methods for determining heteroplasmy of mitochondrial nucleic acid
AssigneeMitoKor
InventorsWilliam Davis Parker, Corinna Herrnstadt, Soumitra Ghosh, Eoin D. Fahy
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Abstract
The present invention relates to methods of detecting genetic mutations in mitochondrial cytochrome oxidase c genes that segregate with Alzheimer's Disease and methods for determining the amount of heteroplasmy of mitochondrial nucleic acid. The invention provides methods for detecting such mutations, as a diagnostic for Alzheimer's Disease, either before or after the onset of clinical symptoms.
Claims34
A method for diagnosing the risk of having Alzheimer's disease in a patient comprising:
- a) obtaining a biological sample containing mitochondria from the patient;
- b) obtaining nucleic acids from said sample;
- c) determining the presence and frequency of at least one missense mutation in the sequence of a mitochondrial cytochrome c oxidase gene in said nucleic acids wherein the presence of at least one mutation correlates with risk of having Alzheimer's disease;
- d) quantitating the degree of heteroplasmy at the site of said at least one mutation in the nucleic acid;
- and
- e) correlating the presence of the at least one mutation and the degree of heteroplasmy with the risk of having Alzheimer's disease.
3 more elements
A method for diagnosing the risk of having Alzheimer's disease in a patient comnrising:
- a) obtaining a biological sample containing mitochondria from the patient;
- b) obtaining nucleic acids from said sample;
- c) determining the presence and frequency of at least one silent mutation in the sequence of a mitochondrial cytochrome c oxidase gene in said nucleic acids wherein the presence of at least one mutation correlates with risk of having Alzheimer's disease;
- d) quantitating the degree of heteroplasmv at the site of said at least one mutation in the nucleic acid;
- and
- e) correlating the presence of the at least one mutation and the degree of heteroplasmy with the risk of having Alzheimer's disease.
3 more elements
Dependencies are inferred from the claim text.