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1. (WO2017065335) MUTANT PARK2 GENE AND METHOD FOR DIAGNOSING PARKINSON'S DISEASE USING SAME
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2017/065335    International Application No.:    PCT/KR2015/010992
Publication Date: 20.04.2017 International Filing Date: 16.10.2015
IPC:
C12Q 1/68 (2006.01), G01N 33/50 (2006.01)
Applicants: THE INDUSTRY & ACADEMIC COOPERATION IN CHUNGNAM NATIONAL UNIVERSITY (IAC) [KR/KR]; (Gungdong, Chungnam National Univ.), 99, Daehak-ro Yuseong-gu Daejeon 34134 (KR)
Inventors: KIM, Eun hee; (KR).
PARK, In Won; (KR).
PARK, Min Young; (KR).
YU, Changsun; (KR)
Agent: KIM, Seong Dae; (KR)
Priority Data:
10-2015-0144948 16.10.2015 KR
Title (EN) MUTANT PARK2 GENE AND METHOD FOR DIAGNOSING PARKINSON'S DISEASE USING SAME
(FR) GÈNE PARK2 MUTANT ET PROCÉDÉ POUR LE DIAGNOSTIC DE LA MALADIE DE PARKINSON L'UTILISANT
(KO) 돌연변이 PARK2 유전자 및 이를 이용하여 파킨슨병을 진단하는 방법
Abstract: front page image
(EN)The present invention relates to a method for diagnosing Parkinson's disease using the PARK2 mutant gene. Specifically, the PARK2 mutation inhibits the degradation of AIMP2 and SNCA proteins, thereby causing and aggravating Parkinson's disease. Therefore, the therapeutic effect can be increased by using the composition of the present invention to check whether there is a PARK2 mutation or not and the possibility of Parkinson's disease in advance. In addition, a therapeutic agent for Parkinson's disease can be developed by screening a substance capable of changing the activity of the PARK2 mutant.
(FR)La présente invention concerne un procédé pour diagnostiquer la maladie de Parkinson à l'aide du gène PARK2 mutant. Plus particulièrement, la mutation de PARK2 inhibe la dégradation des protéines AIMP2 et SNCA, ce qui provoque et aggrave la maladie de Parkinson. Par conséquent, l'effet thérapeutique peut être augmenté par l'utilisation de la composition de la présente invention pour vérifier s'il existe une mutation de PARK2 ou non et la possibilité de la maladie de Parkinson à l'avance. En outre, un agent thérapeutique contre la maladie de Parkinson peut être développé par criblage d'une substance capable de modifier l'activité du mutant de PARK2.
(KO)본 발명은 PARK2 돌연변이 유전자를 이용한 파킨슨병의 진단 방법에 관한 것이고, 구체적으로, PARK2 돌연변이는 AIMP2 및 SNCA 단백질의 분해를 억제하므로써, 파킨슨병을 유발하고 악화하게 된다. 따라서, 본 발명의 조성물을 이용하여 PARK2 돌연변이 여부 및 파킨슨병이 발생할 가능성을 사전에 확인함으로써, 치료 효과를 증가시킬 수 있다. 또한, PARK2 돌연변이를 활성을 변화시킬 수 있는 물질을 스크리닝함으로써, 파킨슨병 치료제를 개발할 수 있다.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW.
African Regional Intellectual Property Organization (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG).
Publication Language: Korean (KO)
Filing Language: Korean (KO)