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Machine translation
1. (WO2000063434) MinK-RELATED GENES, FORMATION OF POTASSIUM CHANNELS AND ASSOCIATION WITH CARDIAC ARRHYTHMIA
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2000/063434    International Application No.:    PCT/US2000/010004
Publication Date: 26.10.2000 International Filing Date: 14.04.2000
Chapter 2 Demand Filed:    17.10.2000    
IPC:
A61K 38/00 (2006.01), C07K 14/705 (2006.01), C12Q 1/68 (2006.01)
Applicants: UNIVERSITY OF UTAH RESEARCH FOUNDATION [US/US]; Suite 110, 615 Arapeen Drive, Salt Lake City, UT 84108 (US).
YALE UNIVERSITY [US/US]; 295 Congress Avenue, New Haven, CT 06536 (US)
Inventors: ABBOTT, Geoffrey, W.; (US).
SESTI, Federico; (US).
SPLAWSKI, Igor; (US).
KEATING, Mark, T.; (US).
GOLDSTEIN, Steve, A., N.; (US)
Agent: IHNEN, Jeffrey, L.; Rothwell, Figg, Ernst & Manbeck, Suite 701 East, 555 13th Street N.W., Columbia Square, Washington, DC 20004 (US)
Priority Data:
60/129,404 15.04.1999 US
Title (EN) MinK-RELATED GENES, FORMATION OF POTASSIUM CHANNELS AND ASSOCIATION WITH CARDIAC ARRHYTHMIA
(FR) GENES LIES A MINK, FORMATION DE CANAUX POTASSIQUES ET ASSOCIATION AVEC L'ARYTHMIE CARDIAQUE
Abstract: front page image
(EN)The present invention is directed to genes and gene products related to Min-K which form ion channels and to a process for diagnosis of ion channel disorders, including long QT syndrome (LQT). For example, KCNE2 forms I¿Kr? potassium channels and is associated with LQT. LQT is diagnosed in accordance with the present invention by analyzing the DNA sequence of $i(KCNE2) of an individual to be tested and comparing the respective DNA sequence to the known DNA sequence of a normal $i(KCNE2) gene. Alternatively, these MinK-related genes of an individual to be tested can be screened for mutations which cause ion channel disorders, including LQT. Prediction of ion channel disorders, including LQT, will enable practitioners to prevent the disorders using existing medical therapy. This invention is further directed to the discovery that the HERG and KCNE2 (also known as MiRP1) proteins coassemble to form a cardiac I¿Kr? potassium channel.
(FR)L'invention concerne des gènes et des produits géniques liés à Min-K qui forment des canaux ioniques, et un procédé de diagnostic de troubles des canaux ioniques, y compris le syndrome du QT long (LQT). Par exemple, KCNE2 forme des canaux potassiques I¿Kr? et est associé à LQT. Le procédé permettant de diagnostiquer LQT, selon l'invention, comporte les étapes consistant à analyser la séquence d'ADN de $i(KCNE2) d'un sujet à tester, et à comparer la séquence d'ADN respective avec la séquence d'ADN connue d'un gène $i(KCNE2) normal. Dans un autre mode de réalisation, ces gènes liés à MinK d'un sujet à tester peuvent être analysés en vue de rechercher des mutations provoquant des troubles des canaux ioniques, y compris LQT. La prédiction de troubles des canaux ioniques, y compris LQT, permet aux praticiens de prévenir des affections à l'aide de thérapies médicales existantes. L'invention concerne en outre la découverte que les protéines HERG et KCNE2 (également appelées MiRP1) s'assemblent pour former un canal potassique I¿Kr? cardiaque.
Designated States: AE, AG, AL, AM, AT, AU, AZ, BA, BB, BG, BR, BY, CA, CH, CN, CR, CU, CZ, DE, DK, DM, DZ, EE, ES, FI, GB, GD, GE, GH, GM, HR, HU, ID, IL, IN, IS, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MA, MD, MG, MK, MN, MW, MX, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, TJ, TM, TR, TT, TZ, UA, UG, UZ, VN, YU, ZA, ZW.
African Regional Intellectual Property Organization (GH, GM, KE, LS, MW, SD, SL, SZ, TZ, UG, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, MD, RU, TJ, TM)
European Patent Office (AT, BE, CH, CY, DE, DK, ES, FI, FR, GB, GR, IE, IT, LU, MC, NL, PT, SE)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GW, ML, MR, NE, SN, TD, TG).
Publication Language: English (EN)
Filing Language: English (EN)