WO2002024747A3 - Polymorphisms in human genes of cardiovascular regulators and their use in diagnostic and therapeutic applications - Google Patents

Polymorphisms in human genes of cardiovascular regulators and their use in diagnostic and therapeutic applications Download PDF

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Publication number
WO2002024747A3
WO2002024747A3 PCT/EP2001/010087 EP0110087W WO0224747A3 WO 2002024747 A3 WO2002024747 A3 WO 2002024747A3 EP 0110087 W EP0110087 W EP 0110087W WO 0224747 A3 WO0224747 A3 WO 0224747A3
Authority
WO
WIPO (PCT)
Prior art keywords
relates
methods
polynucleotide
genes
diagnostic
Prior art date
Application number
PCT/EP2001/010087
Other languages
French (fr)
Other versions
WO2002024747A2 (en
Inventor
Ulrich Brinkmann
Sven Hoffmeyer
Original Assignee
Epidauros Biotechnologie Ag
Ulrich Brinkmann
Sven Hoffmeyer
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 Epidauros Biotechnologie Ag, Ulrich Brinkmann, Sven Hoffmeyer filed Critical Epidauros Biotechnologie Ag
Priority to AU2001289861A priority Critical patent/AU2001289861A1/en
Publication of WO2002024747A2 publication Critical patent/WO2002024747A2/en
Publication of WO2002024747A3 publication Critical patent/WO2002024747A3/en

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    • 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
    • C12N9/14—Hydrolases (3)
    • C12N9/48—Hydrolases (3) acting on peptide bonds (3.4)
    • C12N9/50—Proteinases, e.g. Endopeptidases (3.4.21-3.4.25)
    • C12N9/64—Proteinases, e.g. Endopeptidases (3.4.21-3.4.25) derived from animal tissue
    • C12N9/6421—Proteinases, e.g. Endopeptidases (3.4.21-3.4.25) derived from animal tissue from mammals
    • C12N9/6489—Metalloendopeptidases (3.4.24)
    • C12N9/6497—Endothelin-converting enzyme (3.4.24.71)
    • 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
    • C07K14/575—Hormones
    • C07K14/57536—Endothelin, vasoactive intestinal contractor [VIC]
    • 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
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • C07K14/72—Receptors; Cell surface antigens; Cell surface determinants for hormones
    • 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
    • C12Y—ENZYMES
    • C12Y304/00—Hydrolases acting on peptide bonds, i.e. peptidases (3.4)
    • C12Y304/24—Metalloendopeptidases (3.4.24)
    • C12Y304/24071—Endothelin-converting enzyme 1 (3.4.24.71)
    • 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
    • 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
    • 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
    • C12Q2600/158—Expression markers
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/32—Cardiovascular disorders

Abstract

The present invention relates to a polynucleotide of the EDN/EDNR/ECE signaling system which is associated with at least one cardiovascular disease. Moreover, the invention relates to genes or vectors comprising the polynucleotides of the invention and to a host cell genetically engineered with the polynucleotide or gene of the invention. Further, the invention relates to methods for producing molecular variant polypeptides or fragments thereof, methods for producing cell capable of expressing a molecular variant polypeptide and to a polypeptide or fragment thereof encoded by the polynucleotide or the gene of the invention or which is obtainable by the method or from the cells produced by the method of the invention. Furthermore, the invention relates to an antibody which binds specifically the polypeptide of the invention. Moreover, the invention relates to a transgenic non-human animal. The invention also relates to a solid support comprising one or a plurality of the above mentioned polynucleotides, genes, vectors, polypeptides, antibodies or host cells. Furthermore, methods of identifying a single nucleotide polymorphism, identifying and obtaining a pro-drug or drug or an inhibitor are also encompassed by the present invention. In addition, the invention relates to methods for producing of a pharmaceutical composition and to methods of diagnosing or disease. Further, the invention relates to a method of detection of the polynucleotide of the invention. Furthermore, comprised by the present invention are a diagnostic and a pharmaceutical composition. Even more, the invention relates to uses of the polynucleotides, genes, vectors, polypeptides or antibodies of the invention. Finally, the invention relates to a diagnostic kit.
PCT/EP2001/010087 2000-09-19 2001-08-31 Polymorphisms in human genes of cardiovascular regulators and their use in diagnostic and therapeutic applications WO2002024747A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001289861A AU2001289861A1 (en) 2000-09-19 2001-08-31 Polymorphisms in human genes of cardiovascular regulators and their use in diagnostic and therapeutic applications

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP00120123 2000-09-19
EP00120123.5 2000-09-19

Publications (2)

Publication Number Publication Date
WO2002024747A2 WO2002024747A2 (en) 2002-03-28
WO2002024747A3 true WO2002024747A3 (en) 2003-07-31

Family

ID=8169848

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2001/010087 WO2002024747A2 (en) 2000-09-19 2001-08-31 Polymorphisms in human genes of cardiovascular regulators and their use in diagnostic and therapeutic applications

Country Status (2)

Country Link
AU (1) AU2001289861A1 (en)
WO (1) WO2002024747A2 (en)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3050151C (en) * 2003-11-26 2023-03-07 Celera Corporation Single nucleotide polymorphisms associated with cardiovascular disorders and statin response, methods of detection and uses thereof
WO2005090602A2 (en) * 2004-03-18 2005-09-29 Sucampo Ag Method for diagnosing or predicting susceptibility to optic nueropathy

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1999011778A1 (en) * 1997-09-02 1999-03-11 University Of Sheffield Antisense treatment of pulmonary hypertension

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1999011778A1 (en) * 1997-09-02 1999-03-11 University Of Sheffield Antisense treatment of pulmonary hypertension

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
CAMBIEN F ET AL: "SEQUENCE DIVERSITY IN 36 CANDIDATE GENES FOR CARDIOVASCULAR DISORDERS", AMERICAN JOURNAL OF HUMAN GENETICS, UNIVERSITY OF CHICAGO PRESS, CHICAGO,, US, vol. 65, no. 1, July 1999 (1999-07-01), pages 183 - 191, XP000920770, ISSN: 0002-9297 *
TIRET L ET AL: "THE LYS198ASN POLYMORPHISM IN THE ENDOTHELIN-1 GENE IS ASSOCIATED WITH BLOOD PRESSURE IN OVERWEIGHT PEOPLE", HYPERTENSION, vol. 33, 1999, pages 1169 - 1174, XP002905177, ISSN: 0194-911X *

Also Published As

Publication number Publication date
WO2002024747A2 (en) 2002-03-28
AU2001289861A1 (en) 2002-04-02

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