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WO2002059369A3 - Compositions et procedes de traitement des maladies liees a une mauvaise regulation du cholesterol - Google Patents

Compositions et procedes de traitement des maladies liees a une mauvaise regulation du cholesterol Download PDF

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Publication number
WO2002059369A3
WO2002059369A3 PCT/US2001/047962 US0147962W WO02059369A3 WO 2002059369 A3 WO2002059369 A3 WO 2002059369A3 US 0147962 W US0147962 W US 0147962W WO 02059369 A3 WO02059369 A3 WO 02059369A3
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WO
WIPO (PCT)
Prior art keywords
cholesterol
present
disease
treatment
faulty
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/US2001/047962
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English (en)
Other versions
WO2002059369A2 (fr
Inventor
Peter Lobel
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.)
Rutgers Health
Original Assignee
University of Medicine and Dentistry of New Jersey
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 University of Medicine and Dentistry of New Jersey filed Critical University of Medicine and Dentistry of New Jersey
Publication of WO2002059369A2 publication Critical patent/WO2002059369A2/fr
Anticipated expiration legal-status Critical
Publication of WO2002059369A3 publication Critical patent/WO2002059369A3/fr
Ceased legal-status Critical Current

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    • 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
    • A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • A61K38/1703—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • A61K38/1709—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • 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
    • 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
    • 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
    • G01N33/92—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
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Immunology (AREA)
  • Medicinal Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Public Health (AREA)
  • Wood Science & Technology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Hematology (AREA)
  • Microbiology (AREA)
  • Urology & Nephrology (AREA)
  • Veterinary Medicine (AREA)
  • Epidemiology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Physics & Mathematics (AREA)
  • Food Science & Technology (AREA)
  • Cell Biology (AREA)
  • Marine Sciences & Fisheries (AREA)
  • Endocrinology (AREA)
  • General Engineering & Computer Science (AREA)
  • Toxicology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)

Abstract

La maladie de Niemann-Pick de type C2 (NP-C2) est une anomalie létale du stockage des lipide caractérisée par une accumulation lysomiale massive du cholestérol et la présente invention identifie le HE1 comme gène responsable de la NP-C2. Le traitement des fibroblastes de la NP-C2 par un élément génétique d'HE1 exogène a permis d'améliorer le phénotype d'accumulation du cholestérol, le HE1 influant sur le transport intracellulaire du cholestérol. L'invention porte sur des compositions thérapeutiques consistant en séquences de polynucléotides et de polypeptides du HE1, ainsi que sur un système d'expression du HE1 dans des cellules cibles. Lesdites compositions thérapeutiques peuvent servir à cibler des maladies dues à un mauvais transport et une mauvaise régulation du cholestérol, dont la NP-C2, l'athérosclérose, la maladie d'Alzheimer, le diabète, et les maladies cardio-vasculaires. L'invention porte également sur des procédés de diagnostic à la fois de la NP-C2, et de la capacité d'un sujet à transmettre la maladie, par détection des mutations de la séquence du gène du HE1.
PCT/US2001/047962 2000-11-01 2001-11-01 Compositions et procedes de traitement des maladies liees a une mauvaise regulation du cholesterol Ceased WO2002059369A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US24503100P 2000-11-01 2000-11-01
US60/245,031 2000-11-01

Publications (2)

Publication Number Publication Date
WO2002059369A2 WO2002059369A2 (fr) 2002-08-01
WO2002059369A3 true WO2002059369A3 (fr) 2003-05-22

Family

ID=22925035

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/047962 Ceased WO2002059369A2 (fr) 2000-11-01 2001-11-01 Compositions et procedes de traitement des maladies liees a une mauvaise regulation du cholesterol

Country Status (1)

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WO (1) WO2002059369A2 (fr)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1394267A1 (fr) * 2002-08-19 2004-03-03 Bayer HealthCare AG Polymorphismes à nucléotide unique permettant de pronostiquer les maladies cardio-vasculaires, les effets secondaires et l'efficacité des medicaments
AU2023212478A1 (en) * 2022-01-28 2024-08-29 The University Of Melbourne THERAPEUTIC mRNA

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0440321A2 (fr) * 1990-02-01 1991-08-07 IHF INSTITUT FÜR HORMON- UND FORTPFLANZUNGSFORSCHUNG GmbH Séquences d'ADN spécifique d'épididymis et leur utilisation
WO1999001555A1 (fr) * 1997-07-03 1999-01-14 The United States Of America Represented By The Secretary, Department Of Health And Human Services Genes de la maladie de niemann-pick de type c

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0440321A2 (fr) * 1990-02-01 1991-08-07 IHF INSTITUT FÜR HORMON- UND FORTPFLANZUNGSFORSCHUNG GmbH Séquences d'ADN spécifique d'épididymis et leur utilisation
WO1999001555A1 (fr) * 1997-07-03 1999-01-14 The United States Of America Represented By The Secretary, Department Of Health And Human Services Genes de la maladie de niemann-pick de type c

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
C. KIRCHHOFF ET AL: "Molecular cloning of HE1, a major secretory protein of the human Epididymis", BIOLOGY OF REPRODUCTION, vol. 54, 1996, pages 847 - 856, XP008015206 *
MILLAT GILLES ET AL: "Niemann-Pick C1 disease: The I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 65, no. 5, November 1999 (1999-11-01), pages 1321 - 1329, XP002235643, ISSN: 0002-9297 *
MILLAT GILLES ET AL: "Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 69, no. 5, November 2001 (2001-11-01), pages 1013 - 1021, XP002235646, ISSN: 0002-9297 *
NAURECKIENE SAULE ET AL: "Identification of HE1 as the second gene of Niemann-Pick C disease.", SCIENCE (WASHINGTON D C), vol. 290, no. 5500, 22 December 2000 (2000-12-22), pages 2298 - 2301, XP002235645, ISSN: 0036-8075 *
OKAMURA NAOMICHI ET AL: "A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol.", BIOCHEMICA ET BIOPHYSICA ACTA, vol. 1438, no. 3, 10 June 1999 (1999-06-10), pages 377 - 387, XP002235644, ISSN: 0008-3002 *
STEINBERG STEVEN J ET AL: "Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.", JOURNAL OF MEDICAL GENETICS, vol. 31, no. 4, 1994, pages 317 - 320, XP008015357, ISSN: 0022-2593 *
VANIER M T ET AL: "Genetic heterogeneity in Niemann-Pick disease: A study using somatic cell hybridzation and linkage analysis", AMERICAN JOURNAL OF HUMAN GENETICS, UNIVERSITY OF CHICAGO PRESS, CHICAGO,, US, vol. 58, no. 1, 1996, pages 118 - 125, XP002078615, ISSN: 0002-9297 *
YAMAMOTO TOSHIYUKI ET AL: "Genotype-phenotype relationship of Niemann-Pick disease type C: A possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.", JOURNAL OF MEDICAL GENETICS, vol. 37, no. 9, September 2000 (2000-09-01), pages 707 - 711, XP008015193, ISSN: 0022-2593 *

Also Published As

Publication number Publication date
WO2002059369A2 (fr) 2002-08-01

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