Cytochrome oxidase mutations aiding diagnosis of sporadic alzhei

Details Cytochrome oxidase mutations aiding diagnosis of sporadic alzhei Cytochrome oxidase mutations aiding diagnosis of sporadic alzhei

1994-03-30

1996-10-15

Jones, W. Gary

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 911, 435 912, 435 9152, 536 235, 536 2431, C12Q 168, C12P 1934, C07H 2100

Patent

active

055653235

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.

REFERENCES:
Marzuki et al. Normal variants of human mitochondrial DNA and translation products: The building of a reference data based Hum Genet (1991) 88:139-145.
Parker et al., "Cytochrome oxidase deficiency in Alzheimer's disease." Neurology 40:1302-1303 (1990).
Anderson et al., "Sequence and organization of the human mitochondrial genome." Nature 290:457-465 (1981).
Bennett et al., "Cytochrome oxidase inhibition a novel animal model of alzheimer's disease." J. of Geriatric Psychiatry and Neurology 5:93-101 (1992).
Kish et al., "Brain cytochrome oxidase in alheimer's disease." J. of Neurochemistry 59(2):776-779 (1992).
Bowling et al., "Age-dependent impairment of mitochondrial function in primate brain." J. of Neurochemistry 60(5):1964-1967 (1993).
Chandrasekaran et al., "Localization of cytochrome oxidase (COX) activity and COX mRNA in the perirhinal and superior temporal sulci of the monkey brain." Brain Research 606:213-219 (1993).
Douglas C. Wallace, "Mitochondrial genetics: a paradigm for aging and degenerative diseases." Science 256:628-632 (1992).
Wallace et al., "Mitochondrial DNA mutations in epilepsy and neurological disease." Epilepsia 35(1):S43-S50 (1994).
Shoffner et al., "Mitochondrial DNA variants observed in alzheimer disease and parkinson disease patients." Ognomics 17:171-184 (1993).
Simonian et al., "Functional alterations in alzheimer's disease: diminution of cytochrome oxidase in the hippocampal formation." J. of Neuropathy and Experimental Neurology 52(6):580-585 (1993).
Howell et al., "Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees." Am. J. Hum. Genet. 49:939-950 (1991).
Chandrasekaran et al., "Differential expression of cytochrome oxidase (COX) genes in different regions of monkey brain." J. of Neuroscience Research 32:415-423 (1992).
Suggs et al., "Use of synthetic oligonucleotides as hybridization probes: isolation of cloned cDNA sequences for human .beta..sub.2 -microglobulin." Proc. Natl. Acad. Sci. USA 78(11):6613-6617 (1981).
Saiki et al., "Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes." Proc. Natl. Acad. USA 86:6230-6234 (1989).
Kuppuswamy et al., "Single nucleotide primer extension to detect genetic diseases: Experimental application to hemophilia B (factor IX) and cystic fibrosis genes." Proc. Natl. Sci. USA 88:1143-1147 (1991).
Syvanen et al., "A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E." Genomics 8:684-692 (1990).
Landegren et al., "A ligase-mediated gene detection technique." Science 241:1077-1080 (1988).
Conner et al., "Detection of sickle cell .beta..sup.s -globin allele by hybridization with synthetic oligonucleotides." Proc. Natl. Acad. Sci. USA 80:278-282 (1983).
Nickerson et al., "Automated DNA diagnostics using an ELISA-based oligonucleotide ligation assay." Proc. Natl. Acad. Sci. USA 87:8923-8927 (1990).
Fodor et al., "Multiplexed biochemical assays with biological chips." Nature 364:555-556.
Fodor et al., "Light-directed, spatially addressable parallel chemical synthesis." Research Article 767-773 (1991).
Matthews and Kricka, "Analytical strategies for the use of DNA probes." Analytical Biochemistry 169:1-25 (1988).
Francis Barany, "Genetic disease detection and DNA amplification using cloned thermostable ligase." Proc. Natl. Acad. Sci. USA 88:189-193 (1991).
Gibbs et al., "Detection of single DNA base differences by competitive oligonucleotide priming." Nucleic Acids Research 2437-2448 (1989).
Ghosh et al., "Use of maleimide-thiol coupling chemistry for efficient syntheses of oligonucleotide-enzyme conjugate hybridization probes." Bioconjugate Chem. 1(1)71-76 (1990).
Ishii and Ghosh, "Bead-based sandwich hybridization characteristics of oligonucleotide-alkaline phosphatase conjugates and their potential for quantitating target RNA sequences." Bioconjugate Chem. 4(1):34-41 (1993).
Jablonski et al., "Preparation of oligodeoxynucleotide-alkaline phosphatase conjugates and their use as hybridization probes." Nucleic Acids Research 14(15):6115-6129 (1986).
Li et al., "Enzyme-linked synthetic oligonucleotide probes:non-radioactive detection of enterotoxigenic Escherichia coli in faecal specimens." Nucleic Acids Research 15(13):5275-5287 (1987).
Newton et al., "Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)." Nucleic Acids Research 17(7):2503-2517 (1989).
Gingeras et al., "Use of self-sustained sequence replication amplification reaction to analyze and detect mutations in zidovudine-resistant human immunodeficiency virus." J. of Infectious Diseases 164:1066-1074 (1991).
Erlich et al., "Specific DNA amplification." Nature 331:461-462 (1988).
Richman et al., "Human immunodificiency virus type 1 mutants resistant to nonnucleoside inhibitors of reverse transcriptase arise in tissue culture." Proc. Natl. Acad. Sci. USA 88:11241-11245 (1991).
Wu and Wallace, "The ligation amplification reaction (LAR)-amplification of specific DNA sequences using sequential rounds of template-dependent ligation." Genomics 4:560-569 (1989).
Barany et al., PCR Methods and App. 1:5-16 (1991).

Affiliated with

Also associated with

Rating

Cytochrome oxidase mutations aiding diagnosis of sporadic alzhei does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Cytochrome oxidase mutations aiding diagnosis of sporadic alzhei, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Cytochrome oxidase mutations aiding diagnosis of sporadic alzhei will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-1245033