WO2021020776A3 - 뇌전증 및 이와 동반하는 인지기능 장애의 진단, 예방 및 치료를 위한 mlc1의 용도 - Google Patents

뇌전증 및 이와 동반하는 인지기능 장애의 진단, 예방 및 치료를 위한 mlc1의 용도 Download PDF

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Publication number
WO2021020776A3
WO2021020776A3 PCT/KR2020/009367 KR2020009367W WO2021020776A3 WO 2021020776 A3 WO2021020776 A3 WO 2021020776A3 KR 2020009367 W KR2020009367 W KR 2020009367W WO 2021020776 A3 WO2021020776 A3 WO 2021020776A3
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Prior art keywords
mlc1
epilepsy
associated therewith
cognitive impairments
diagnosis
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PCT/KR2020/009367
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English (en)
French (fr)
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WO2021020776A2 (ko
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조경옥
김지은
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가톨릭대학교 산학협력단
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Priority claimed from KR1020200086937A external-priority patent/KR102330101B1/ko
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Publication of WO2021020776A2 publication Critical patent/WO2021020776A2/ko
Publication of WO2021020776A3 publication Critical patent/WO2021020776A3/ko

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    • 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
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Physics & Mathematics (AREA)
  • Biomedical Technology (AREA)
  • Urology & Nephrology (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Hematology (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Cell Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)

Abstract

본 발명은 뇌전증 및 이와 동반하는 인지기능 장애의 진단, 예방 및 치료를 위한 MLC1의 신규 용도에 관한 것으로, 뇌전증 발작을 유도한 마우스 모델의 해마에서 초기 발작 후 MLC1의 발현 수준이 유의하게 증가하는 것을 확인하고, 이로부터 초기 발작을 일으킨 개체의 해마 내 MLC1의 발현 수준을 통해 뇌전증을 진단할 수 있을 뿐만 아니라, 상기 MLC1을 표적으로 하여 뇌전증의 진행과 이와 동반하는 인지기능 저하를 개선 및 치료할 수 있다.
PCT/KR2020/009367 2019-07-31 2020-07-16 뇌전증 및 이와 동반하는 인지기능 장애의 진단, 예방 및 치료를 위한 mlc1의 용도 WO2021020776A2 (ko)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
KR20190093400 2019-07-31
KR10-2019-0093400 2019-07-31
KR1020200086937A KR102330101B1 (ko) 2019-07-31 2020-07-14 뇌전증 및 이와 동반하는 인지기능 장애의 진단, 예방 및 치료를 위한 mlc1의 용도
KR10-2020-0086937 2020-07-14

Publications (2)

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WO2021020776A2 WO2021020776A2 (ko) 2021-02-04
WO2021020776A3 true WO2021020776A3 (ko) 2021-03-25

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Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20070116555A (ko) * 2006-06-05 2007-12-10 한국생명공학연구원 간질 특이적 유전자들의 발현 정도 측정을 통한 간질 진단키트
KR20150026623A (ko) * 2013-09-03 2015-03-11 한국과학기술원 뇌전증 진단용 바이오마커
KR20180004400A (ko) * 2015-03-06 2018-01-11 한국과학기술원 mTOR 억제제를 포함하는 난치성 뇌전증의 예방 또는 치료용 조성물

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20070116555A (ko) * 2006-06-05 2007-12-10 한국생명공학연구원 간질 특이적 유전자들의 발현 정도 측정을 통한 간질 진단키트
KR20150026623A (ko) * 2013-09-03 2015-03-11 한국과학기술원 뇌전증 진단용 바이오마커
KR20180004400A (ko) * 2015-03-06 2018-01-11 한국과학기술원 mTOR 억제제를 포함하는 난치성 뇌전증의 예방 또는 치료용 조성물

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
BRIGNONE MARIA S., LANCIOTTI ANGELA, CAMERINI SERENA, DE NUCCIO CHIARA, PETRUCCI TAMARA C., VISENTIN SERGIO, AMBROSINI ELENA: "MLC1 protein: a likely link between leukodystrophies and brain channelopathies", FRONTIERS IN CELLULAR NEUROSCIENCE, vol. 09, XP055792242, DOI: 10.3389/fncel.2015.00106 *
DUBEY MOHIT, BROUWERS EELKE, HAMILTON ELINE M.C., STIEDL OLIVER, BUGIANI MARIANNA, KOCH HENNER, KOLE MAARTEN H.P., BOSCHERT URSULA: "Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts : Seizures in the Leukodystrophy MLC", ANNALS OF NEUROLOGY, JOHN WILEY AND SONS, BOSTON , US, vol. 83, no. 3, 1 March 2018 (2018-03-01), Boston , US, pages 636 - 649, XP055792236, ISSN: 0364-5134, DOI: 10.1002/ana.25190 *
PARK EUN YOUNG, KIM YOUNG OK, KIM JI YOUN, YEO CHAE YOUNG, BAEK HEE JO, KIM CHAN JONG, KIM EUN YOUNG, WOO YOUNG JONG: "A case of megalencephalic leukoencephalopathy with subcortical cysts", KOREAN JOURNAL OF PEDIATRICS, vol. 51, no. 12, December 2008 (2008-12-01), pages 1342 - 1345, XP009526763, DOI: 10.3345/kjp.2008.51.12.1342 *
TEIJIDO, O. CASAROLI-MARANO, R. KHARKOVETS, T. AGUADO, F. ZORZANO, A. PALACIN, M. SORIANO, E. MARTINEZ, A. ESTEVEZ: "Expression patterns of MLC1 protein in the central and peripheral nervous systems", NEUROBIOLOGY OF DISEASE, ELSEVIER, AMSTERDAM, NL, vol. 26, no. 3, 19 May 2007 (2007-05-19), AMSTERDAM, NL, pages 532 - 545, XP022083692, ISSN: 0969-9961, DOI: 10.1016/j.nbd.2007.01.016 *
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