WO2000063441A3 - Single nucleotide polymorphisms in mitochondrial genes that segregate with alzheimer's disease - Google Patents

Single nucleotide polymorphisms in mitochondrial genes that segregate with alzheimer's disease Download PDF

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Publication number
WO2000063441A3
WO2000063441A3 PCT/US2000/010906 US0010906W WO0063441A3 WO 2000063441 A3 WO2000063441 A3 WO 2000063441A3 US 0010906 W US0010906 W US 0010906W WO 0063441 A3 WO0063441 A3 WO 0063441A3
Authority
WO
WIPO (PCT)
Prior art keywords
alzheimer
disease
single nucleotide
nucleotide polymorphisms
segregate
Prior art date
Application number
PCT/US2000/010906
Other languages
French (fr)
Other versions
WO2000063441A2 (en
Inventor
Corinna Herrnstadt
Robert E Davis
Original Assignee
Mitokor
Corinna Herrnstadt
Robert E Davis
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Mitokor, Corinna Herrnstadt, Robert E Davis filed Critical Mitokor
Priority to AU43683/00A priority Critical patent/AU4368300A/en
Priority to CA002370884A priority patent/CA2370884A1/en
Priority to JP2000612518A priority patent/JP2003521879A/en
Priority to EP00923583A priority patent/EP1208225A2/en
Publication of WO2000063441A2 publication Critical patent/WO2000063441A2/en
Publication of WO2000063441A3 publication Critical patent/WO2000063441A3/en

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6834—Enzymatic or biochemical coupling of nucleic acids to a solid phase
    • C12Q1/6837—Enzymatic or biochemical coupling of nucleic acids to a solid phase using probe arrays or probe chips
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

Abstract

Compositions and methods based on determination of single nucleotide polymorphisms in mtDNA or homoplasmic mtDNA mutations are provided that are useful for detecting the presence of or risk for having Alzheimer's disease (AD), and for identifying agents suitable for treating AD.
PCT/US2000/010906 1999-04-20 2000-04-19 Single nucleotide polymorphisms in mitochondrial genes that segregate with alzheimer's disease WO2000063441A2 (en)

Priority Applications (4)

Application Number Priority Date Filing Date Title
AU43683/00A AU4368300A (en) 1999-04-20 2000-04-19 Single nucleotide polymorphisms in mitochondrial genes that segregate with alzheimer's disease
CA002370884A CA2370884A1 (en) 1999-04-20 2000-04-19 Single nucleotide polymorphisms in mitochondrial genes that segregate with alzheimer's disease
JP2000612518A JP2003521879A (en) 1999-04-20 2000-04-19 Single nucleotide polymorphisms in mitochondrial genes segregating with Alzheimer's disease
EP00923583A EP1208225A2 (en) 1999-04-20 2000-04-19 Single nucleotide polymorphisms in mitochondrial genes that segregate with alzheimer's disease

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US13044799P 1999-04-20 1999-04-20
US60/130,447 1999-04-20
US16090199P 1999-10-22 1999-10-22
US60/160,901 1999-10-22

Publications (2)

Publication Number Publication Date
WO2000063441A2 WO2000063441A2 (en) 2000-10-26
WO2000063441A3 true WO2000063441A3 (en) 2002-03-14

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2000/010906 WO2000063441A2 (en) 1999-04-20 2000-04-19 Single nucleotide polymorphisms in mitochondrial genes that segregate with alzheimer's disease

Country Status (5)

Country Link
EP (1) EP1208225A2 (en)
JP (1) JP2003521879A (en)
AU (1) AU4368300A (en)
CA (1) CA2370884A1 (en)
WO (1) WO2000063441A2 (en)

Families Citing this family (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP4472253B2 (en) * 2000-12-04 2010-06-02 プリマゲン ベー．フェー． Examination of internal symbiotic organelles and compounds identifiable thereby
GB2380194B (en) * 2001-10-01 2005-06-22 Roger Michael Marchbanks A mitochondrial mutation associated with schizophrenia and increased oxidative stress
US6897025B2 (en) * 2002-01-07 2005-05-24 Perlegen Sciences, Inc. Genetic analysis systems and methods
CA2513191A1 (en) * 2003-01-30 2004-08-12 Research Development Foundation Methods and compositions for analysis of mitochondrial-related gene expression
EP2270159B1 (en) 2003-05-21 2015-01-07 Andes Biotechnologies S.A. Markers for pre-cancer and cancer cells and the method to interfere with cell proliferation therein
EP1694695A4 (en) * 2003-12-11 2007-10-31 1304854 Ontario Ltd Complete mitochondrial genome sequences as a diagnostic tool for the health sciences
US20130022979A1 (en) 2005-04-18 2013-01-24 Genesis Genomics Inc. 3.4kb MITOCHONDRIAL DNA DELETION FOR USE IN THE DETECTION OF CANCER
CN101248180B (en) 2005-04-18 2013-09-25 米托米克斯公司 Mitochondrial mutations and rearrangements as a diagnostic tool for the detection of sun exposure, prostate cancer and other cancers
EP2142923A2 (en) * 2007-03-23 2010-01-13 King's College London Altered mitochondrial activity in diseases resulting from oxidative stress
CA2805586C (en) * 2010-07-16 2020-09-01 Stichting Vu-Vumc A method of analysing a blood sample of a subject for the presence of a disease marker
EP3483607A1 (en) 2011-03-18 2019-05-15 Stichting VUmc A method of analysing a blood sample of a subject for the presence of a disease marker
ES2482866B1 (en) * 2012-11-22 2015-05-12 Consejo Superior De Investigaciones Científicas (Csic) METHOD OF DIAGNOSIS AND / OR PROGNOSIS OF NEURODEGENERATIVE DISEASES.
ES2546743B1 (en) * 2014-03-28 2016-07-07 Institut D'investigació Biomèdica De Bellvitge (Idibell) Mitochondrial markers of neurodegenerative diseases
GB2566516A (en) 2017-09-15 2019-03-20 Univ Oxford Innovation Ltd Electrochemical recognition and quantification of cytochrome c oxidase expression in bacteria
JPWO2020111169A1 (en) * 2018-11-28 2021-11-04 国立大学法人千葉大学 Genetic testing methods and test kits for multifactorial genetic diseases
CN113862346B (en) * 2021-09-26 2023-07-07 北京大学 Application of long-chain non-coding RNA in treatment of Alzheimer disease

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1994009162A1 (en) * 1992-10-20 1994-04-28 Emory University School Of Medicine Detection of mitochondrial dna mutations associated with alzheimer's disease and parkinson's disease
US5565323A (en) * 1994-03-30 1996-10-15 Mitokor Cytochrome oxidase mutations aiding diagnosis of sporadic alzheimer's disease
EP0812922A2 (en) * 1996-05-16 1997-12-17 Affymetrix, Inc. (a California Corporation) Polymorphisms in human mitochondrial nucleic acid
WO1998023632A1 (en) * 1996-11-27 1998-06-04 Mitokor An optimal procedure for isolation of mutant mitochondrial alleles
WO1998038335A1 (en) * 1997-02-28 1998-09-03 Mitokor Methods for detecting mitochondrial mutations diagnostic for alzheimer's disease and determining heteroplasmy of mitochondrial nucleic acid

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1994009162A1 (en) * 1992-10-20 1994-04-28 Emory University School Of Medicine Detection of mitochondrial dna mutations associated with alzheimer's disease and parkinson's disease
US5565323A (en) * 1994-03-30 1996-10-15 Mitokor Cytochrome oxidase mutations aiding diagnosis of sporadic alzheimer's disease
EP0812922A2 (en) * 1996-05-16 1997-12-17 Affymetrix, Inc. (a California Corporation) Polymorphisms in human mitochondrial nucleic acid
WO1998023632A1 (en) * 1996-11-27 1998-06-04 Mitokor An optimal procedure for isolation of mutant mitochondrial alleles
WO1998038335A1 (en) * 1997-02-28 1998-09-03 Mitokor Methods for detecting mitochondrial mutations diagnostic for alzheimer's disease and determining heteroplasmy of mitochondrial nucleic acid

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
ANDERSON S ET AL: "SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME", NATURE, MACMILLAN JOURNALS LTD. LONDON, GB, vol. 290, 9 April 1981 (1981-04-09), pages 457 - 465, XP002052335, ISSN: 0028-0836 *
CHAGNON P ET AL.: "Brain mitochondrial DNA polymorphism and cytochrome oxidase activity in Alzheimer's disease", ALZHEIMER'S RESEARCH, vol. 2, 1996, pages 237 - 242, XP001023664 *
FAHY E ET AL: "Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 25, no. 15, 1997, pages 3102 - 3109, XP002133461, ISSN: 0305-1048 *
HUTCHIN T AND CORTOPASSI G: "A mitochondrial DNA clone is associated with increased risk for Alzheimer's disease", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES USA, vol. 92, 1995, pages 6892 - 6895, XP002176586 *
LIN F-H ET AL.: "Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 182, no. 1, 1992, pages 238 - 246, XP002176587 *
SHOFFNER J M ET AL.: "Mitochondrial DNA variants observed in Alzheimer Disease and Parkinson Disease patients", GENOMICS, vol. 17, 1993, pages 171 - 184, XP001023698 *
STONEKING M ET AL: "POPULATION VARIATION OF HUMAN MTDNA CONTROL REGION SEQUENCES DETECTED BY ENZYMATIC AMPLIFICATION AND SEQUENCE-SPECIFIC OLIGONUCLEOTIDE PROBES", AMERICAN JOURNAL OF HUMAN GENETICS, UNIVERSITY OF CHICAGO PRESS, CHICAGO,, US, vol. 48, no. 2, 1 February 1991 (1991-02-01), pages 370 - 382, XP000653199, ISSN: 0002-9297 *
TANNO Y ET AL.: "mtDNA polymorphisms in Japanese sporadic Alzheimer's disease", NEUROBIOLOGY OF AGING, vol. 19, no. 1S, 1998, pages S47 - S51, XP001023696 *

Also Published As

Publication number Publication date
EP1208225A2 (en) 2002-05-29
WO2000063441A2 (en) 2000-10-26
AU4368300A (en) 2000-11-02
CA2370884A1 (en) 2000-10-26
JP2003521879A (en) 2003-07-22

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