WO2009044722A1 - Gène sensible à une maladie associée avec la dégénérescence d'un disque intervertébral et son utilisation - Google Patents

Gène sensible à une maladie associée avec la dégénérescence d'un disque intervertébral et son utilisation Download PDF

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Publication number
WO2009044722A1
WO2009044722A1 PCT/JP2008/067720 JP2008067720W WO2009044722A1 WO 2009044722 A1 WO2009044722 A1 WO 2009044722A1 JP 2008067720 W JP2008067720 W JP 2008067720W WO 2009044722 A1 WO2009044722 A1 WO 2009044722A1
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Prior art keywords
intervertebral disc
disc degeneration
disease associated
gene
diagnostic method
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PCT/JP2008/067720
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English (en)
Japanese (ja)
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Shiro Ikegawa
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Riken
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Publication of WO2009044722A1 publication Critical patent/WO2009044722A1/fr

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    • 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)
    • C12N9/6491—Matrix metalloproteases [MMP's], e.g. interstitial collagenase (3.4.24.7); Stromelysins (3.4.24.17; 3.2.1.22); Matrilysin (3.4.24.23)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P19/00—Drugs for skeletal disorders
    • A61P19/02—Drugs for skeletal disorders for joint disorders, e.g. arthritis, arthrosis
    • 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
    • C07K14/78—Connective tissue peptides, e.g. collagen, elastin, laminin, fibronectin, vitronectin or cold insoluble globulin [CIG]
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    • 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
    • C12Q2600/136—Screening for pharmacological 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
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/435—Assays involving biological materials from specific organisms or of a specific nature from animals; from humans
    • G01N2333/46—Assays involving biological materials from specific organisms or of a specific nature from animals; from humans from vertebrates
    • G01N2333/47—Assays involving proteins of known structure or function as defined in the subgroups
    • G01N2333/4701—Details
    • G01N2333/4724—Lectins
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/81—Protease inhibitors
    • G01N2333/8107—Endopeptidase (E.C. 3.4.21-99) inhibitors
    • G01N2333/8146—Metalloprotease (E.C. 3.4.24) inhibitors, e.g. tissue inhibitor of metallo proteinase, TIMP
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/10—Musculoskeletal or connective tissue disorders
    • G01N2800/105—Osteoarthritis, e.g. cartilage alteration, hypertrophy of bone

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
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  • Bioinformatics & Cheminformatics (AREA)
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  • General Engineering & Computer Science (AREA)
  • Biophysics (AREA)
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  • Biotechnology (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Pathology (AREA)
  • Rheumatology (AREA)
  • Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

On vise à proposer un procédé de diagnostic pour une maladie associée à une dégénérescence de disque intervertébral (telle qu'une détérioration structurale de disque intervertébral ou une hernie discale) par diagnostic et hémodiagnostic génétique. À cet effet, l'invention porte sur un procédé de diagnostic pour la sensibilité génétique à une maladie associée à une dégénérescence de disque intervertébral d'un sujet d'essai. Le procédé de diagnostic est caractérisé par la détection d'un ou plusieurs polymorphismes choisis dans le groupe constitué par les polymorphismes qui sont présents dans le gène de la thrombospondine-2 (gène THBS2) et/ou le gène de métalloprotéinase-9 de matrice (gène MMP9) et ont une fréquence de l'un des allèles dans un groupe arbitraire de patients présentant une maladie associée à une dégénérescence de disque intervertébral plus grande que dans un groupe arbitraire d'individus sans une maladie associée à une dégénérescence de disque intervertébral dans un échantillon contenant de l'ADN recueilli à partir du sujet d'essai.
PCT/JP2008/067720 2007-10-01 2008-09-30 Gène sensible à une maladie associée avec la dégénérescence d'un disque intervertébral et son utilisation WO2009044722A1 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
JP2007-257345 2007-10-01
JP2007257345 2007-10-01

Publications (1)

Publication Number Publication Date
WO2009044722A1 true WO2009044722A1 (fr) 2009-04-09

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PCT/JP2008/067720 WO2009044722A1 (fr) 2007-10-01 2008-09-30 Gène sensible à une maladie associée avec la dégénérescence d'un disque intervertébral et son utilisation

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Cited By (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN105385776A (zh) * 2015-12-24 2016-03-09 叶伟亮 Ccdc57基因在椎间盘退行性疾病诊断和治疗中的应用
CN105483242A (zh) * 2015-12-24 2016-04-13 叶伟亮 一种与椎间盘退行性疾病相关的分子标记物
CN105483272A (zh) * 2016-01-29 2016-04-13 北京泱深生物信息技术有限公司 一种诊治椎间盘退行性病变的分子标志物
CN105603085A (zh) * 2016-01-29 2016-05-25 北京泱深生物信息技术有限公司 椎间盘退行性病变的诊治靶标

Non-Patent Citations (10)

* Cited by examiner, † Cited by third party
Title
GRUBER, H.E. ET AL.: "Immunolocalization of thrombospondin in the human and sand rat intervertebral disc", SPINE, vol. 31, no. 22, 2006, pages 2556 - 61 *
HIROSE Y. ET AL.: "Splicing ni Eikyo o Ataeru THBS2 no Kinoteki SNP wa Yotsui Tsuikanban Hernia no Hassho ni Kanren suru", THE JOURNAL OF THE JAPANESE ORTHOPAEDIC ASSOCIATION(J.JPN.ORTHOP.ASSOC.), vol. 82, no. 8, 25 August 2008 (2008-08-25), pages S956 *
HIROSE, Y. ET AL.: "A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation", AM J HUM GENET, vol. 82, no. 5, 2008, pages 1122 - 9 *
KIFLAI, B. ET AL.: "Thrombospondin type 1 repeats interact with matrix metalloproteinase 2 REGURATION OF METALLOPROTEINASE ACTIVITY", J BIOL CHEM, vol. 275, no. 41, 2000, pages 32167 - 73 *
LEVINE, J.M. ET AL.: "Matrix metalloproteinase-9 activity in the cerebrospinal fluid and serum of dogs with acute spinal cord trauma from intervertebral disk disease", AM J VET RES, vol. 67, no. 2, 2006, pages 283 - 7 *
MAKOTO TAKAHASHI ET AL.: "MMP-9 Idenshi no Promoter Ryoiki ni Sonzai suru Tagatasei to Yotsui Tsuikanban Hensei tono Kanren", JOURNAL OF THE JAPAN SPINE RESEARCH SOCIETY, vol. 14, no. 1, 2003, pages 208 *
SEKI S. ET AL.: "COL9A2 Idenshi Haplotype to Yotsui Tsuikanban Hernia tono Sokan", JOURNAL OF THE JAPAN SPINE RESEARCH SOCIETY, vol. 17, no. 1, 2006, pages 586 *
SEKI S. ET AL.: "Yotsui Tsuikanban Hernia no Idenshi Kaiseki", JOURNAL OF THE JAPAN SPINE RESEARCH SOCIETY, vol. 17, no. 1, 2006, pages 145 *
SEKI, S. ET AL.: "A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease", NAT GENET, vol. 37, no. 6, 2005, pages 607 - 12 *
YANG, Z. ET AL.: "Matricellular proteins as modulators of cell-matrix interactions: adhesive defect in thrombospondin 2-null fibroblasts is a consequence of increased levels of matrix metalloproteinase-2", MOL BIOL CELL, vol. 11, no. 10, 2000, pages 3353 - 64 *

Cited By (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN105385776A (zh) * 2015-12-24 2016-03-09 叶伟亮 Ccdc57基因在椎间盘退行性疾病诊断和治疗中的应用
CN105483242A (zh) * 2015-12-24 2016-04-13 叶伟亮 一种与椎间盘退行性疾病相关的分子标记物
CN105385776B (zh) * 2015-12-24 2018-10-26 叶伟亮 Ccdc57基因在椎间盘退行性疾病诊断和治疗中的应用
CN105483242B (zh) * 2015-12-24 2019-02-22 北京致成生物医学科技有限公司 一种与椎间盘退行性疾病相关的分子标记物
CN105483272A (zh) * 2016-01-29 2016-04-13 北京泱深生物信息技术有限公司 一种诊治椎间盘退行性病变的分子标志物
CN105603085A (zh) * 2016-01-29 2016-05-25 北京泱深生物信息技术有限公司 椎间盘退行性病变的诊治靶标

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