WO2003061583A3 - Digenic mutations associated with severe insulin resistance and type 2 diabetes and their use in the diagnosis and treatment of diabetes - Google Patents

Digenic mutations associated with severe insulin resistance and type 2 diabetes and their use in the diagnosis and treatment of diabetes Download PDF

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Publication number
WO2003061583A3
WO2003061583A3 PCT/US2003/001625 US0301625W WO03061583A3 WO 2003061583 A3 WO2003061583 A3 WO 2003061583A3 US 0301625 W US0301625 W US 0301625W WO 03061583 A3 WO03061583 A3 WO 03061583A3
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WO
WIPO (PCT)
Prior art keywords
diabetes
treatment
protein
digenic
diagnosis
Prior art date
Application number
PCT/US2003/001625
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French (fr)
Other versions
WO2003061583A2 (en
WO2003061583A9 (en
Inventor
Ines Barroso
Alan J Schafer
Stephen O O'rahilly
Nicholas J Wareham
Original Assignee
Incyte Genomics Inc
Ines Barroso
Alan J Schafer
Stephen O O'rahilly
Nicholas J Wareham
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.)
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Publication date
Application filed by Incyte Genomics Inc, Ines Barroso, Alan J Schafer, Stephen O O'rahilly, Nicholas J Wareham filed Critical Incyte Genomics Inc
Priority to AU2003205230A priority Critical patent/AU2003205230A1/en
Publication of WO2003061583A2 publication Critical patent/WO2003061583A2/en
Publication of WO2003061583A9 publication Critical patent/WO2003061583A9/en
Publication of WO2003061583A3 publication Critical patent/WO2003061583A3/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)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • 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
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • C07K14/70567—Nuclear receptors, e.g. retinoic acid receptor [RAR], RXR, nuclear orphan receptors
    • 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
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • G01N33/566—Immunoassay; Biospecific binding assay; Materials therefor using specific carrier or receptor proteins as ligand binding reagents where possible specific carrier or receptor proteins are classified with their target compounds
    • 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

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Immunology (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Physics & Mathematics (AREA)
  • Biomedical Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Pathology (AREA)
  • Urology & Nephrology (AREA)
  • Cell Biology (AREA)
  • Hematology (AREA)
  • General Engineering & Computer Science (AREA)
  • High Energy & Nuclear Physics (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

The invention provides mutated genes for peroxisome proliferator-activated receptor gamma (PPARϜ ) and the glycogen-associated regulatory subunit of protein phosphatase-1 (PPP1R3A), PPARϜ FS and PPP1R3AFS, respectively, and polynucleotides and proteins of PPARϜ FS and PPP1R3AFS that are expressed in diabetes. It also provides for the use of the DNA mutation, the protein, a polynucleotide encoding the protein, and antibodies that specifically bind the protein in various methods to diagnose, stage, treat, or monitor the treatment of diabetes.
PCT/US2003/001625 2002-01-18 2003-01-17 Digenic mutations associated with severe insulin resistance and type 2 diabetes and their use in the diagnosis and treatment of diabetes WO2003061583A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2003205230A AU2003205230A1 (en) 2002-01-18 2003-01-17 Digenic mutations associated with severe insulin resistance and type 2 diabetes and their use in the diagnosis and treatment of diabetes

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US35040502P 2002-01-18 2002-01-18
US60/350,405 2002-01-18

Publications (3)

Publication Number Publication Date
WO2003061583A2 WO2003061583A2 (en) 2003-07-31
WO2003061583A9 WO2003061583A9 (en) 2003-11-27
WO2003061583A3 true WO2003061583A3 (en) 2004-02-26

Family

ID=27613388

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2003/001625 WO2003061583A2 (en) 2002-01-18 2003-01-17 Digenic mutations associated with severe insulin resistance and type 2 diabetes and their use in the diagnosis and treatment of diabetes

Country Status (2)

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AU (1) AU2003205230A1 (en)
WO (1) WO2003061583A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2574424A1 (en) * 2004-07-28 2006-02-02 F. Hoffmann-La Roche Ag Insulin promoter factor 1 as target/marker of beta cell failure

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6294559B1 (en) * 1996-05-02 2001-09-25 Merck & Co., Inc. Antiproliferative agents associated with peroxisome proliferator activated receptors gamma1 and gamma2
US6365361B1 (en) * 1997-08-27 2002-04-02 Tanabe Seiyaku Co., Ltd. Method for identifying or screening agonist and antagonist to PPAR

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6294559B1 (en) * 1996-05-02 2001-09-25 Merck & Co., Inc. Antiproliferative agents associated with peroxisome proliferator activated receptors gamma1 and gamma2
US6365361B1 (en) * 1997-08-27 2002-04-02 Tanabe Seiyaku Co., Ltd. Method for identifying or screening agonist and antagonist to PPAR

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
MUKHERJEE ET AL.: "Identification, characterization and tissue distribution of human peroxisome proliferator-activated receptor (PPAR) isoforms PPARgamma2 versus PPARgamma1 and activation with retinoid X receptor agonists and antagonists", J. BIOL. CHEM., vol. 272, no. 12, 21 March 1997 (1997-03-21), pages 8071 - 8076, XP002081436 *

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Publication number Publication date
WO2003061583A2 (en) 2003-07-31
AU2003205230A1 (en) 2003-09-02
WO2003061583A9 (en) 2003-11-27

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