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WO2004042064A3 - Disorders of lipid metabolism - Google Patents

Disorders of lipid metabolism Download PDF

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Publication number
WO2004042064A3
WO2004042064A3 PCT/GB2003/004816 GB0304816W WO2004042064A3 WO 2004042064 A3 WO2004042064 A3 WO 2004042064A3 GB 0304816 W GB0304816 W GB 0304816W WO 2004042064 A3 WO2004042064 A3 WO 2004042064A3
Authority
WO
WIPO (PCT)
Prior art keywords
disorders
lipid metabolism
disease
cmrd
nucleic acid
Prior art date
Legal status (The legal status 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 status listed.)
Ceased
Application number
PCT/GB2003/004816
Other languages
French (fr)
Other versions
WO2004042064A2 (en
Inventor
James Scott
Carol Christine Shoulders
Paul Simon Freemont
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Ip2ipo Innovations Ltd
Original Assignee
Imperial College Innovations Ltd
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
Priority claimed from GB0226039A external-priority patent/GB0226039D0/en
Priority claimed from GB0226152A external-priority patent/GB0226152D0/en
Priority claimed from GB0305463A external-priority patent/GB0305463D0/en
Priority claimed from GB0323689A external-priority patent/GB0323689D0/en
Application filed by Imperial College Innovations Ltd filed Critical Imperial College Innovations Ltd
Priority to AU2003279461A priority Critical patent/AU2003279461A1/en
Publication of WO2004042064A2 publication Critical patent/WO2004042064A2/en
Publication of WO2004042064A3 publication Critical patent/WO2004042064A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

Links

Classifications

    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • A61P3/06—Antihyperlipidemics
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K16/00—Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies
    • C07K16/40—Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies against enzymes
    • 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)
    • 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
    • C12Q1/34—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving hydrolase
    • C12Q1/42—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving hydrolase involving phosphatase
    • 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
    • G01N33/92—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving lipids, e.g. cholesterol, lipoproteins, or their receptors
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/04—Endocrine or metabolic disorders
    • G01N2800/044—Hyperlipemia or hypolipemia, e.g. dyslipidaemia, obesity

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Pathology (AREA)
  • Urology & Nephrology (AREA)
  • Diabetes (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • General Chemical & Material Sciences (AREA)
  • Endocrinology (AREA)
  • Cell Biology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Obesity (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)

Abstract

The present invention provides isolated or recombinant nucleic acid molecules having one or more mutations linked to disorders of lipid metabolism such as Chylomicron Retention Disease (CMRD), Anderson's Disease (AD), Chylomicron Retention Disease with Marinesco-Sjogren Syndrome (CMRD with MSS), obesity, insulin resistance, type II diabetes, atheroscelerosis, dyslipidemia, and hyperlipidemia; and the polypeptides encoded by the mutated nucleic acid molecule(s). The present invention further provides for the diagnosis, prophylaxis and/or treatment of disorders of lipid metabolism.
PCT/GB2003/004816 2002-11-07 2003-11-07 Disorders of lipid metabolism Ceased WO2004042064A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2003279461A AU2003279461A1 (en) 2002-11-07 2003-11-07 Disorders of lipid metabolism

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
GB0226039A GB0226039D0 (en) 2002-11-07 2002-11-07 Conditions of lipid excess
GB0226039.6 2002-11-07
GB0226152.7 2002-11-08
GB0226152A GB0226152D0 (en) 2002-11-08 2002-11-08 Conditions of lipid excess
GB0305463A GB0305463D0 (en) 2003-03-10 2003-03-10 Disorders of lipid metabolism
GB0305463.2 2003-03-10
GB0323689.0 2003-10-09
GB0323689A GB0323689D0 (en) 2003-10-09 2003-10-09 Disorders of lipid metabolism

Publications (2)

Publication Number Publication Date
WO2004042064A2 WO2004042064A2 (en) 2004-05-21
WO2004042064A3 true WO2004042064A3 (en) 2004-12-02

Family

ID=32314923

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB2003/004816 Ceased WO2004042064A2 (en) 2002-11-07 2003-11-07 Disorders of lipid metabolism

Country Status (2)

Country Link
AU (1) AU2003279461A1 (en)
WO (1) WO2004042064A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
BR112018074472A2 (en) * 2016-05-27 2019-03-19 Synthex, Inc. protein interfaces

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
DANNOURA A H ET AL: "Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes.", ARTERIOSCLEROSIS, THROMBOSIS, AND VASCULAR BIOLOGY. OCT 1999, vol. 19, no. 10, October 1999 (1999-10-01), pages 2494 - 2508, XP002292952, ISSN: 1079-5642 *
ESPENSHADE PETER J ET AL: "Sterols block binding of COPII proteins to SCAP, thereby controlling SCAP sorting in ER", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol. 99, no. 18, 3 September 2002 (2002-09-03), pages 11694 - 11699, XP002293708, ISSN: 0027-8424 *
HUSSAIN M M: "A proposed model for the assembly of chylomicrons.", ATHEROSCLEROSIS. JAN 2000, vol. 148, no. 1, January 2000 (2000-01-01), pages 1 - 15, XP002292733, ISSN: 0021-9150 *
JONES BETHAN ET AL: "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.", NATURE GENETICS. MAY 2003, vol. 34, no. 1, May 2003 (2003-05-01), pages 29 - 31, XP002292736, ISSN: 1061-4036 *
KUGE OSAMU ET AL: "Sar1 promotes vesicle budding from the endoplasmic reticulum but not Golgi compartments", JOURNAL OF CELL BIOLOGY, vol. 125, no. 1, 1994, pages 51 - 65, XP002292735, ISSN: 0021-9525 *
SHOULDERS CAROL C ET AL: "The intracellular transport of chylomicrons requires the small GTPase, Sar1b.", CURRENT OPINION IN LIPIDOLOGY. APR 2004, vol. 15, no. 2, April 2004 (2004-04-01), pages 191 - 197, XP002292737, ISSN: 0957-9672 *

Also Published As

Publication number Publication date
WO2004042064A2 (en) 2004-05-21
AU2003279461A1 (en) 2004-06-07
AU2003279461A8 (en) 2004-06-07

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