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WO2004070057A3 - Verwendung eines neuen polymorphismus im hsgk1-gen zur diagnose der hypertonie und verwendung der sgk-genfamilie zur diagnose und therapie des long-q/t-syndroms - Google Patents

Verwendung eines neuen polymorphismus im hsgk1-gen zur diagnose der hypertonie und verwendung der sgk-genfamilie zur diagnose und therapie des long-q/t-syndroms Download PDF

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Publication number
WO2004070057A3
WO2004070057A3 PCT/EP2004/001051 EP2004001051W WO2004070057A3 WO 2004070057 A3 WO2004070057 A3 WO 2004070057A3 EP 2004001051 W EP2004001051 W EP 2004001051W WO 2004070057 A3 WO2004070057 A3 WO 2004070057A3
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Prior art keywords
diagnosis
syndrome
long
sgk
gene
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PCT/EP2004/001051
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English (en)
French (fr)
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WO2004070057A2 (de
Inventor
Florian Lang
Andreas Busjahn
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Florian Lang
Andreas Busjahn
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Application filed by Florian Lang, Andreas Busjahn filed Critical Florian Lang
Priority to JP2006501739A priority Critical patent/JP2006520587A/ja
Priority to US10/544,576 priority patent/US20080015141A1/en
Priority to EP04708317A priority patent/EP1594983A2/de
Priority to BR0407292-8A priority patent/BRPI0407292A/pt
Priority to MXPA05008329A priority patent/MXPA05008329A/es
Priority to AU2004209609A priority patent/AU2004209609A1/en
Priority to CA002515339A priority patent/CA2515339A1/en
Publication of WO2004070057A2 publication Critical patent/WO2004070057A2/de
Publication of WO2004070057A3 publication Critical patent/WO2004070057A3/de

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    • 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
    • A61K31/56—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids
    • A61K31/57—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids substituted in position 17 beta by a chain of two carbon atoms, e.g. pregnane or progesterone
    • A61K31/573—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids substituted in position 17 beta by a chain of two carbon atoms, e.g. pregnane or progesterone substituted in position 21, e.g. cortisone, dexamethasone, prednisone or aldosterone
    • 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
    • A61K31/56—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids
    • 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
    • A61K38/18—Growth factors; Growth regulators
    • A61K38/1841—Transforming growth factor [TGF]
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P9/00—Drugs for disorders of the cardiovascular system
    • A61P9/06—Antiarrhythmics
    • 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
    • G01N33/573—Immunoassay; Biospecific binding assay; Materials therefor for enzymes or isoenzymes
    • 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
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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
    • 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
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/90—Enzymes; Proenzymes
    • G01N2333/91—Transferases (2.)
    • G01N2333/912—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • G01N2333/91205—Phosphotransferases in general
    • G01N2333/9121—Phosphotransferases in general with an alcohol group as acceptor (2.7.1), e.g. general tyrosine, serine or threonine kinases

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Abstract

Die Erfindung betrifft die Verwendung einer einzel- oder doppelsträngigen Nukleinsäure enthaltend ein Fragment der hsgk zur Diagnose von Hypertonie, wobei das besagte Fragment mindestens 10 Nukleotide/Basenpaare lang ist und wobei das besagte Fragment weiterhin einen Polymorphismus umfasst, welcher sich aus der Anwesenheit bzw. Abwesenheit einer Insertion des Nukleotids G an Position 732/733 in Intron 2 des hsgk 1 Gens ergibt. Die Erfindung betrifft weiterhin die Verwendung der direkten Korrelation zwischen der Überexpression oder der funktionalen molekularen Modifikation von humanen Homologen der sgk-Familie und der Länge der Q/T-Zeit zur Diagnose des Long-Q/T-Syndroms, sowie die Verwendung der Nukleinsäure eines humanen Homologen der sgk-Genfamilie oder eines ihrer Fragmente zur Diagnose des Long-Q/T-Syndroms. Insbesondere lassen sich auch hier Polymorphismen einzelner Nukleotide (single nucleotide polymorphisms = SNP) in den humanen Homologen der sgk­Genfamilie zur Diagnose einer genetisch bedingten Prädisposition zum Long-Q/T-Syndrom einsetzen. In einem weiteren Aspekt betrifft die Erfindung die Verwendung eines funktionalen Aktivators oder eines Transkriptionsfaktors, der die Expression der Gene der sgk-Familie steigert, zur Herstellung eines Arzneimittels zur Therapie und/oder zur Prophylaxe des Long-Q/T-Syndroms.
PCT/EP2004/001051 2003-02-07 2004-02-05 Verwendung eines neuen polymorphismus im hsgk1-gen zur diagnose der hypertonie und verwendung der sgk-genfamilie zur diagnose und therapie des long-q/t-syndroms WO2004070057A2 (de)

Priority Applications (7)

Application Number Priority Date Filing Date Title
JP2006501739A JP2006520587A (ja) 2003-02-07 2004-02-05 高血圧を診断するための、ｈｓｇｋ１遺伝子における新規な多型の使用、および、ＱＴ延長症候群を診断および治療するための、ｓｇｋ遺伝子ファミリーの使用
US10/544,576 US20080015141A1 (en) 2003-02-07 2004-02-05 Use of a Novel Polymorphism in the Hsgk1 Gene in the Diagnosis of Hypertonia an Use of the Sgk Gene Family in the Diagnosis and Therapy of the Long Qt Syndrome
EP04708317A EP1594983A2 (de) 2003-02-07 2004-02-05 Verwendung eines neuen polymorphismus im hsgk1-gen zur diagnose der hypertonie und verwendung der sgk-genfamilie zur diagnose und therapie des long-q/t-syndroms
BR0407292-8A BRPI0407292A (pt) 2003-02-07 2004-02-05 Uso de um ácido nucleico, da correlação direta entre a super-expressão ou a modificação molecular funcional de homólogos humanos da famìlia sgk e a extensão do intervalo q/t, de um anticorpo dirigido contra um substrato de um homólogo humano da famìlia sgk, de um ativador funcional, ou de um regulador de transcrição positivo, de um homólogo humano da famìlia sgk e uso de substâncias selecionadas dentre o grupo consistindo de glucocorticóides, mineralocorticóides, aldosterona, gonadotropinas e citocinas, kit e método para diagnosticar hipertensão, kit para diagnosticar a sìndrome de qt longo e fármaco
MXPA05008329A MXPA05008329A (es) 2003-02-07 2004-02-05 Uso de un polimorfismo novedoso en el gen hsgk1 para el diagnostico de hipertonia y el uso de la familia del gen sgk en el diagnostico y terapia del sindrome q/t largo.
AU2004209609A AU2004209609A1 (en) 2003-02-07 2004-02-05 Use of a novel polymorphism in the hsgk1 gene in the diagnosis of hypertonia and use of the sgk gene family in the diagnosis and therapy of the long QT syndrome
CA002515339A CA2515339A1 (en) 2003-02-07 2004-02-05 Use of a novel polymorphism in the hsgk1 gene in the diagnosis of hypertonia and use of the sgk gene family in the diagnosis and therapy of the long qt syndrome

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
DE10305213.5 2003-02-07
DE10305213A DE10305213A1 (de) 2003-02-07 2003-02-07 Verwendung eines neuen Polymorphismus im hsgk1-Gen zur Diagnose der Hypertonie und Verwendung der sgk-Genfamilie zur Diagnose und Therapie des Long-Q/T-Syndroms

Publications (2)

Publication Number Publication Date
WO2004070057A2 WO2004070057A2 (de) 2004-08-19
WO2004070057A3 true WO2004070057A3 (de) 2004-11-25

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ID=32747646

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Application Number Title Priority Date Filing Date
PCT/EP2004/001051 WO2004070057A2 (de) 2003-02-07 2004-02-05 Verwendung eines neuen polymorphismus im hsgk1-gen zur diagnose der hypertonie und verwendung der sgk-genfamilie zur diagnose und therapie des long-q/t-syndroms

Country Status (14)

Country Link
US (1) US20080015141A1 (de)
EP (1) EP1594983A2 (de)
JP (1) JP2006520587A (de)
KR (1) KR20050118672A (de)
CN (1) CN1761760A (de)
AU (1) AU2004209609A1 (de)
BR (1) BRPI0407292A (de)
CA (1) CA2515339A1 (de)
DE (1) DE10305213A1 (de)
MX (1) MXPA05008329A (de)
PL (1) PL378400A1 (de)
RU (1) RU2005127807A (de)
WO (1) WO2004070057A2 (de)
ZA (1) ZA200506283B (de)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP5071998B2 (ja) * 2005-08-25 2012-11-14 学校法人日本大学 本態性高血圧症の判定方法
WO2007025792A1 (de) * 2005-09-02 2007-03-08 Florian Lang Verfahren zur diagnose von hypertonie
EP2090588A4 (de) 2006-10-23 2010-04-07 Neocodex S L In-vitro-verfahren zur prognose und/oder diagnose von überempfindlichkeit gegen estrogene oder substanzen mit estrogener wirkung
AR066984A1 (es) 2007-06-15 2009-09-23 Novartis Ag Inhibicion de la expresion de la subunidad alfa del canal epitelial de sodio (enac) por medio de arni (arn de interferencia)
CN101892311B (zh) * 2010-06-01 2013-02-27 首都医科大学附属北京安贞医院 高血压易感基因的单核苷酸多态性位点rs7550536的检测方法及检测试剂盒
EP3049085B9 (de) * 2013-09-26 2021-08-18 Beth Israel Deaconess Medical Center, Inc. Sgk1 inhibitoren bei der behandlung von long-qt-syndrom
TN2019000308A1 (en) 2017-07-06 2021-05-07 Arrowhead Pharmaceuticals Inc RNAi AGENTS FOR INHIBITING EXPRESSION OF ALPHA-ENaC AND METHODS OF USE
KR101992796B1 (ko) * 2018-02-19 2019-06-26 한국 한의학 연구원 Sgk1 유전자의 메틸화 수준을 이용한 고혈압의 예측 또는 진단을 위한 정보제공방법 및 이를 위한 조성물

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WO2000035946A1 (en) * 1998-12-14 2000-06-22 The University Of Dundee Methods
DE10113876A1 (de) * 2001-03-21 2002-09-26 Eberhard Karls Uni Medizinisch Quantitative diagnostische Analyse der Hypertonie
WO2003102206A2 (de) * 2002-06-04 2003-12-11 Florian Lang Sgk und nedd als diagnostische und therapeutische targets

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US5474796A (en) * 1991-09-04 1995-12-12 Protogene Laboratories, Inc. Method and apparatus for conducting an array of chemical reactions on a support surface

Patent Citations (3)

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Publication number Priority date Publication date Assignee Title
WO2000035946A1 (en) * 1998-12-14 2000-06-22 The University Of Dundee Methods
DE10113876A1 (de) * 2001-03-21 2002-09-26 Eberhard Karls Uni Medizinisch Quantitative diagnostische Analyse der Hypertonie
WO2003102206A2 (de) * 2002-06-04 2003-12-11 Florian Lang Sgk und nedd als diagnostische und therapeutische targets

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BUSJAHN A ET AL: "ASSOCIATION OF THE SERUM AND GLUCOCORTICOID REGULATED KINASE (SGK1) GENE WITH QT INTERVAL", CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, KARGER, BASEL, CH, vol. 14, no. 3, 2004, pages 135 - 142, XP009030804, ISSN: 1015-8987 *
BUSJAHN A ET AL: "SERUM- AND GLUCOCORTICOID-REGULATED KINASE (SGK1) GENE AND BLOOD PRESSURE", HYPERTENSION, XX, XX, vol. 40, no. 3, September 2002 (2002-09-01), pages 256 - 260, XP008016812, ISSN: 0194-911X *
BUSJAHN A ET AL: "TWIN STUDIES IN THE ANALYSIS OF MINOR PHYSIOLOGICAL DIFFERENCES BETWEEN INDIVIDUALS", CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, KARGER, BASEL, CH, vol. 13, no. 1, 2003, pages 51 - 58, XP008016813, ISSN: 1015-8987 *
EMBARK H ET AL: "STIMULATION OF KCNE1 BY THE SERUM AND GLUCOCORTICOID DEPENDENT KINASE SGK1", PFLUEGERS ARCHIV, SPRINGER VERLAG, BERLIN, DE, vol. 443, no. SUPPL 1, March 2002 (2002-03-01), pages S276, XP009030814, ISSN: 0031-6768 *
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PUDIL R ET AL: "SEVERE BRADYCARDIA AFTER A METHYLPREDNISOLONE MINIPULSE TREATMENT", ARCHIVES OF INTERNAL MEDICINE, AMERICAN MEDICAL ASSOCIATION, CHICAGO, IL, US, vol. 161, no. 14, 23 July 2001 (2001-07-23), pages 1778 - 1779, XP009030810, ISSN: 0003-9926 *
REYES T ET AL: "HIGH-DOSE INTRAVENEOUS GLUCOCORTICOIDS CAUSE VENTRICULAR TACHYCARDIA: CASE REPORT AND REVIEW OF THE LITERATURE", CARDIOVASCULAR REVIEWS AND REPORTS, CARDIOVASCULAR REVIEWS AND REPORTS, GREENWICH, CT, US, vol. 23, no. 12, December 2002 (2002-12-01), pages 689 - 691, XP008012689, ISSN: 0197-3118 *
SNYDER P M ET AL: "SERUM AND GLUCOCORTICOID-REGULATED KINASE MODULATES NEDD4-2-MEDIATED INHIBITION OF THE EPITHELIAL NA+ CHANNEL", JOURNAL OF BIOLOGICAL CHEMISTRY, AMERICAN SOCIETY OF BIOLOGICAL CHEMISTS, BALTIMORE, MD, US, vol. 277, no. 1, 4 January 2002 (2002-01-04), pages 5 - 8, XP001181354, ISSN: 0021-9258 *

Also Published As

Publication number Publication date
CA2515339A1 (en) 2004-08-19
US20080015141A1 (en) 2008-01-17
MXPA05008329A (es) 2005-09-30
PL378400A1 (pl) 2006-04-03
EP1594983A2 (de) 2005-11-16
CN1761760A (zh) 2006-04-19
ZA200506283B (en) 2006-05-31
KR20050118672A (ko) 2005-12-19
JP2006520587A (ja) 2006-09-14
DE10305213A1 (de) 2004-08-26
AU2004209609A1 (en) 2004-08-19
WO2004070057A2 (de) 2004-08-19
BRPI0407292A (pt) 2006-01-31
RU2005127807A (ru) 2006-03-20

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