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1. WO2006092660 - HUMAN OBESITY SUSCEPTIBILITY GENE ENCODING POTASSIUM ION CHANNELS AND USES THEREOF

Publication Number WO/2006/092660
Publication Date 08.09.2006
International Application No. PCT/IB2005/003981
International Filing Date 21.11.2005
IPC
C12Q 1/68 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
CPC
A61P 3/04
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
3Drugs for disorders of the metabolism
04Anorexiants; Antiobesity agents
C12Q 1/6883
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
C12Q 2600/156
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
156Polymorphic or mutational markers
C12Q 2600/158
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
158Expression markers
Applicants
  • INTEGRAGEN [FR]/[FR] (AE, AG, AL, AM, AT, AU, AZ, BA, BB, BE, BF, BG, BJ, BR, BW, BY, BZ, CA, CF, CG, CH, CI, CM, CN, CO, CR, CU, CY, CZ, DE, DK, DM, DZ, EC, EE, EG, ES, FI, FR, GA, GB, GD, GE, GH, GM, GN, GQ, GR, GW, HR, HU, ID, IE, IL, IN, IS, IT, JP, KE, KG, KM, KN, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, LY, MA, MC, MD, MG, MK, ML, MN, MR, MW, MX, MZ, NA, NE, NG, NI, NL, NO, NZ, OM, PG, PH, PL, PT, RO, RU, SC, SD, SE, SG, SI, SK, SL, SM, SN, SY, SZ, TD, TG, TJ, TM, TN, TR, TT, TZ, UA, UG, UZ, VC, VN, YU, ZA, ZM, ZW)
  • PHILIPPI, Anne [FR]/[FR] (UsOnly)
  • ROUSSEAU, Francis [FR]/[FR] (UsOnly)
  • ROSCHMANN, Elke [DE]/[FR] (UsOnly)
Inventors
  • PHILIPPI, Anne
  • ROUSSEAU, Francis
  • ROSCHMANN, Elke
Agents
  • CHAJMOWICZ, Marion
Priority Data
60/629,61122.11.2004US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) HUMAN OBESITY SUSCEPTIBILITY GENE ENCODING POTASSIUM ION CHANNELS AND USES THEREOF
(FR) GENE HUMAIN DE SUSCEPTIBILITE A L'OBESITE CODANT POUR DES CANAUX IONIQUES AU POTASSIUM ET LEURS UTILISATIONS
Abstract
(EN)
The present invention more particularly discloses the identification of human obesity susceptibility genes, which can be used for the diagnosis, prevention and treatment of obesity ant associated disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses certain alleles of potassium voltage-gated channel (E.CNA) genes related to susceptibility to obesity and representing novel targets for therapeutic intervention. More particularly, the potassium voltage-gated channel (KCNA) genes are located on chromosome 12 and are selected from the group consisting of KCNA1, KCNA5 and KCNA6. The present invention relates to particular mutations in the KCNA1, KCNA5 and KCNA6 genes and their expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including but not limited to hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and associated complications and dyslipidemia.
(FR)
La présente invention a trait plus particulièrement à l'identification de gènes humains susceptibles à l'obésité, qui peuvent être utilisés pour le diagnostic, la prévention et le traitement de l'obésité et d'autres troubles associés, ainsi que pour le criblage de médicaments thérapeutiquement actifs. De manière plus spécifique, l'invention a trait à certains allèles des gènes de canaux potassiques commandés par tension liés à la susceptibilité à l'obésité et représentant de nouvelles cibles pour une intervention thérapeutique. Plus particulièrement, les gènes de canaux potassiques commandés par tension sont situés sur le chromosome 12 et sont choisis parmi le groupe constitué de KCNA1, KCNA5 et KCNA6. La présente invention a trait à des mutations particulières dans les gènes KCNA1, KCNA5 et KCNA6 et leurs produits d'expression, ainsi qu'à des outils et des trousses de diagnostic basés sur ces mutations. L'invention peut être utilisée dans le diagnostic de la prédisposition à, la détection, la prévention et/ou le traitement de la cardiopathie coronaire et des troubles métaboliques, comprenant mais de manière non limitée, l'hyperalphalipoprotéinémie, l'hyperlipidémie familiale combinée, le syndrome X résistant à l'insuline ou le trouble métabolique multiple, la maladie artérielle coronaire, le diabète et des complications associées et la dyslipidémie.
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