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1. WO2020231081 - TOP3B GENE MUTATION-BASED DEMENTIA DIAGNOSIS METHOD

Publication Number WO/2020/231081
Publication Date 19.11.2020
International Application No. PCT/KR2020/006028
International Filing Date 07.05.2020
IPC
C12Q 1/6883 2018.01
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
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
C12Q 1/6869 2018.01
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
6869Methods for sequencing
Applicants
  • 주식회사 엠제이브레인바이오 MJ BRAIN BIO CO., LTD [KR]/[KR]
Inventors
  • 이왕준 LEE, Wang Jun
  • 정영희 JUNG, Young Hee
Agents
  • 이처영 LEE, Cheo Young
  • 장제환 CHANG, Je Hwan
Priority Data
10-2019-005496210.05.2019KR
Publication Language Korean (KO)
Filing Language Korean (KO)
Designated States
Title
(EN) TOP3B GENE MUTATION-BASED DEMENTIA DIAGNOSIS METHOD
(FR) PROCÉDÉ DE DIAGNOSTIC DE LA DÉMENCE BASÉ SUR LA MUTATION DU GÈNE TOP3B
(KO) TOP3B 유전자 변이 기반 치매 진단방법
Abstract
(EN)
The present invention relates to a TOP3B gene mutation-based dementia diagnosis method and, more particularly, to a method for diagnosis of dementia on the basis of numbers and loci of single nucleotide variants (SNV)located in the DNA topoisomerase III beta (TOP3B) gene. In the present invention, NGS data and big data analysis identified loci of SNV specifically found at the TOP3B gene in a patient group with dementia, and with respect to the SNV frequency, it was revealed that SNV exists at a high frequency in a patient group with dementia, compared to a normal group. Through the present invention, the etiology and pathology of dementia can be understood and more accurate diagnosis can be made of the risk of dementia by using the gene and SNV, thereby finding useful applications in the development of therapeutic agents for dementia.
(FR)
La présente invention concerne un procédé de diagnostic de la démence basé sur la mutation du gène TOP3B et, plus particulièrement, un procédé de diagnostic de la démence sur la base du nombre et de loci de variants nucléotidiques uniques (SNV) situés dans le gène de la topoisomérase III bêta (TOP3B). Dans la présente invention, grâce à des données de séquençage NGS et d'analyse de mégadonnées, des loci de SNV ont été identifiés, ces derniers se trouvant spécifiquement au niveau du gène TOP3B dans un groupe de patients atteints de démence, et par rapport à la fréquence de SNV, il a été découvert que le SNV existe à une fréquence élevée dans un groupe de patients atteints de démence, par comparaison avec un groupe normal. Grâce à la présente invention, l'étiologie et la pathologie de la démence peuvent être comprises et un diagnostic plus précis peut être posé concernant le risque d'être atteint de démence en se basant sur ledit gène et ledit SNV, ce qui permet de trouver des applications utiles dans le développement d'agents thérapeutiques pour la démence.
(KO)
본 발명은 TOP3B 유전자 변이에 기반한 치매 진단방법에 관한 것으로, 더욱 상세하게는, TOP3B(DNA topoisomerase III beta) 유전자에 존재하는 SNV(Single Nucleotide Variant)의 개수 및 위치를 기반으로 치매를 진단하는 방법에 관한 것이다. 본 발명에서는 NGS 데이터 및 빅데이터 분석을 통하여, 치매 환자군에서 TOP3B 유전자의 특이적으로 발견되는 SNV의 위치들을 확인하였으며, SNV 발생 빈도에 있어서, 정상군에 비하여 치매 환자군에서 높은 빈도의 SNV가 존재함을 확인하였다. 이를 통해 치매의 병인(etiology)과 병리(pathology)를 이해할 수 있고, 상기 유전자 및 SNV를 이용하여 치매 위험도를 보다 정확하게 진단할 수 있으며, 따라서 치매 치료제 개발에 유용하게 활용될 수 있다.
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