WO2004033723A3 - Neurodegenerative disease-associated gene - Google Patents

Neurodegenerative disease-associated gene Download PDF

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Publication number
WO2004033723A3
WO2004033723A3 PCT/GB2003/004337 GB0304337W WO2004033723A3 WO 2004033723 A3 WO2004033723 A3 WO 2004033723A3 GB 0304337 W GB0304337 W GB 0304337W WO 2004033723 A3 WO2004033723 A3 WO 2004033723A3
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WO
WIPO (PCT)
Prior art keywords
neurodegenerative disease
patient
associated gene
dao
abnormality
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PCT/GB2003/004337
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French (fr)
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WO2004033723A2 (en
Inventor
John Mitchell
Belleroche Jacqueline De
Original Assignee
Imp College Innovations Ltd
John Mitchell
Belleroche Jacqueline De
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Publication date
Application filed by Imp College Innovations Ltd, John Mitchell, Belleroche Jacqueline De filed Critical Imp College Innovations Ltd
Priority to AU2003269256A priority Critical patent/AU2003269256A1/en
Publication of WO2004033723A2 publication Critical patent/WO2004033723A2/en
Publication of WO2004033723A3 publication Critical patent/WO2004033723A3/en

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y104/00—Oxidoreductases acting on the CH-NH2 group of donors (1.4)
    • C12Y104/03—Oxidoreductases acting on the CH-NH2 group of donors (1.4) with oxygen as acceptor (1.4.3)
    • C12Y104/03003—D-Amino-acid oxidase (1.4.3.3)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
    • A61K31/425—Thiazoles
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/435—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom
    • A61K31/44—Non condensed pyridines; Hydrogenated derivatives thereof
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
    • A61K31/7048—Compounds having saccharide radicals and heterocyclic rings having oxygen as a ring hetero atom, e.g. leucoglucosan, hesperidin, erythromycin, nystatin, digitoxin or digoxin
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7135—Compounds containing heavy metals
    • A61K31/714—Cobalamins, e.g. cyanocobalamin, i.e. vitamin B12
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/04—Peptides having up to 20 amino acids in a fully defined sequence; Derivatives thereof
    • A61K38/06—Tripeptides
    • A61K38/063—Glutathione
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/44—Oxidoreductases (1)
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0012—Oxidoreductases (1.) acting on nitrogen containing compounds as donors (1.4, 1.5, 1.6, 1.7)
    • C12N9/0014—Oxidoreductases (1.) acting on nitrogen containing compounds as donors (1.4, 1.5, 1.6, 1.7) acting on the CH-NH2 group of donors (1.4)
    • C12N9/0022—Oxidoreductases (1.) acting on nitrogen containing compounds as donors (1.4, 1.5, 1.6, 1.7) acting on the CH-NH2 group of donors (1.4) with oxygen as acceptor (1.4.3)
    • C12N9/0024—D-Amino acid oxidase (1.4.3.3)
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6803—General methods of protein analysis not limited to specific proteins or families of proteins
    • G01N33/6806—Determination of free amino acids
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/07—Animals genetically altered by homologous recombination
    • A01K2217/075—Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K39/00—Medicinal preparations containing antigens or antibodies
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
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    • 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
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
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    • 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
    • C12Q2600/136—Screening for pharmacological compounds
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes
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    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders

Abstract

A method of determining an increased risk of a late-onset neurodegenerative disease to a patient, the method comprising analysing a sample from the patient to determine whether the patient has a D-amino acid oxidase (DAO) abnormality, wherein the presence of a DAO abnormality is an indication that the patient has an increased risk of the late-onset neurodegenerative disease.
PCT/GB2003/004337 2002-10-09 2003-10-06 Neurodegenerative disease-associated gene WO2004033723A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2003269256A AU2003269256A1 (en) 2002-10-09 2003-10-06 Neurodegenerative disease-associated gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GB0223424.3 2002-10-09
GBGB0223424.3A GB0223424D0 (en) 2002-10-09 2002-10-09 Disease-associated gene

Publications (2)

Publication Number Publication Date
WO2004033723A2 WO2004033723A2 (en) 2004-04-22
WO2004033723A3 true WO2004033723A3 (en) 2004-06-03

Family

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AU (1) AU2003269256A1 (en)
GB (1) GB0223424D0 (en)
WO (1) WO2004033723A2 (en)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1669083A1 (en) * 2004-12-10 2006-06-14 Zernike Business Support B.V. Heat shock proteins (HSP) and supraventricular arrhythmia
JP2008523055A (en) * 2004-12-10 2008-07-03 ゼルニケ ビジネス サポート ビー．ヴィー． Heat shock protein (HSP) and supraventricular arrhythmia
WO2007075534A2 (en) 2005-12-16 2007-07-05 Nektar Therapeutics Al, Corporation Polymer conjugates of glp-1
CN114966050A (en) * 2012-03-18 2022-08-30 镜株式会社 Disease sample analysis device, disease sample analysis system, and disease sample analysis method

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5834457A (en) * 1996-01-26 1998-11-10 The Regents Of The University Of California Method of modulating radical formation by mutant cuznsod enzymes
WO2001009118A2 (en) * 1999-07-29 2001-02-08 Patrick T Prendergast Dithiolthione compounds for the treatment of neurological disorders and for memory enhancement
WO2002066672A2 (en) * 2001-01-16 2002-08-29 Genset S.A. Treatment of cns disorders using d-amino acid oxidase and d-aspartate oxidase antagonists
WO2003050303A2 (en) * 2001-12-12 2003-06-19 Genset S.A. Biallelic markers of d-amino acid oxidase and uses thereof

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5834457A (en) * 1996-01-26 1998-11-10 The Regents Of The University Of California Method of modulating radical formation by mutant cuznsod enzymes
WO2001009118A2 (en) * 1999-07-29 2001-02-08 Patrick T Prendergast Dithiolthione compounds for the treatment of neurological disorders and for memory enhancement
WO2002066672A2 (en) * 2001-01-16 2002-08-29 Genset S.A. Treatment of cns disorders using d-amino acid oxidase and d-aspartate oxidase antagonists
WO2003050303A2 (en) * 2001-12-12 2003-06-19 Genset S.A. Biallelic markers of d-amino acid oxidase and uses thereof

Non-Patent Citations (9)

* Cited by examiner, † Cited by third party
Title
ABALKHAIL HALAH ET AL: "A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.", AMERICAN JOURNAL OF HUMAN GENETICS. UNITED STATES AUG 2003, vol. 73, no. 2, August 2003 (2003-08-01), pages 383 - 389, XP001179788, ISSN: 0002-9297 *
CARRI[GRAVE ] M T ET AL: "Expression of a Cu,Zn superoxide dismutase typical of familial amyotrophic lateral sclerosis induces mitochondrial alteration and increase of cytosolic Caconcentration in transfected neuroblastoma SH-SY5Y cells", FEBS LETTERS, ELSEVIER SCIENCE PUBLISHERS, AMSTERDAM, NL, vol. 414, no. 2, 8 September 1997 (1997-09-08), pages 365 - 368, XP004366349, ISSN: 0014-5793 *
FISHER G ET AL: "FREE D- AND L-AMINO ACIDS IN VENTRICULAR CEREBROSPINAL FLUID FROM ALZHEIMER AND NORMAL SUBJECTS", AMINO ACIDS, SPRINGER VERLAG, AU, vol. 15, no. 3, 1998, pages 263 - 269, XP000905598, ISSN: 0939-4451 *
HAMASE K ET AL: "d-Amino acids in mammals and their diagnostic value", JOURNAL OF CHROMATOGRAPHY B: BIOMEDICAL SCIENCES & APPLICATIONS, ELSEVIER SCIENCE PUBLISHERS, NL, vol. 781, no. 1-2, 5 December 2002 (2002-12-05), pages 73 - 91, XP004394149, ISSN: 1570-0232 *
HASHIMOTO A ET AL: "Free D-aspartate and D-serine in the mammalian brain and periphery.", PROGRESS IN NEUROBIOLOGY. ENGLAND JUL 1997, vol. 52, no. 4, July 1997 (1997-07-01), pages 325 - 353, XP002273351, ISSN: 0301-0082 *
IMAI K ET AL: "Analytical chemistry and biochemistry of D-amino acids.", BIOMEDICAL CHROMATOGRAPHY: BMC. ENGLAND 1996 NOV-DEC, vol. 10, no. 6, November 1996 (1996-11-01), pages 303 - 312, XP009027603, ISSN: 0269-3879 *
PILONE M S: "D-amino acid oxidase: new findings", CMLS CELLULAR AND MOLECULAR LIFE SCIENCES, BIRKHAUSER VERLAG, BASEL, CH, vol. 57, 2000, pages 1732 - 1747, XP002967442, ISSN: 1420-682X *
ROSEN D R ET AL: "MUTATIONS IN CU/ZN SUPEROXIDE DISMUTASE GENE ARE ASSOCIATED WITH FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS", NATURE, MACMILLAN JOURNALS LTD. LONDON, GB, vol. 362, no. 6415, 4 March 1993 (1993-03-04), pages 59 - 62, XP001073715, ISSN: 0028-0836 *
SASAKI M ET AL: "A single-base-pair substitution abolishes D-amino-acid oxidase activity in the mouse.", BIOCHIMICA ET BIOPHYSICA ACTA. NETHERLANDS 25 AUG 1992, vol. 1139, no. 4, 25 August 1992 (1992-08-25), pages 315 - 318, XP009027421, ISSN: 0006-3002 *

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GB0223424D0 (en) 2002-11-13
AU2003269256A8 (en) 2004-05-04
AU2003269256A1 (en) 2004-05-04
WO2004033723A2 (en) 2004-04-22

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