WO2019078684A3 - Marqueur de tmem43 destiné au diagnostic de la perte d'audition neurosensorielle et son utilisation - Google Patents

Marqueur de tmem43 destiné au diagnostic de la perte d'audition neurosensorielle et son utilisation Download PDF

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Publication number
WO2019078684A3
WO2019078684A3 PCT/KR2018/012442 KR2018012442W WO2019078684A3 WO 2019078684 A3 WO2019078684 A3 WO 2019078684A3 KR 2018012442 W KR2018012442 W KR 2018012442W WO 2019078684 A3 WO2019078684 A3 WO 2019078684A3
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WO
WIPO (PCT)
Prior art keywords
tmem43
hearing loss
sensorineural hearing
marker
diagnosis
Prior art date
Application number
PCT/KR2018/012442
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English (en)
Korean (ko)
Other versions
WO2019078684A9 (fr
WO2019078684A2 (fr
Inventor
최병윤
오두이
이창준
장민우
오수진
Original Assignee
서울대학교병원
한국과학기술연구원
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by 서울대학교병원, 한국과학기술연구원 filed Critical 서울대학교병원
Publication of WO2019078684A2 publication Critical patent/WO2019078684A2/fr
Publication of WO2019078684A3 publication Critical patent/WO2019078684A3/fr
Publication of WO2019078684A9 publication Critical patent/WO2019078684A9/fr

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    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/027—New or modified breeds of vertebrates
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/027—New or modified breeds of vertebrates
    • A01K67/0275—Genetically modified vertebrates, e.g. transgenic
    • A01K67/0278—Knock-in vertebrates, e.g. humanised vertebrates
    • 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
    • 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
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/07—Animals genetically altered by homologous recombination
    • A01K2217/072—Animals genetically altered by homologous recombination maintaining or altering function, i.e. knock in
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Environmental Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Animal Husbandry (AREA)
  • Biodiversity & Conservation Biology (AREA)
  • Pathology (AREA)
  • Veterinary Medicine (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

La présente invention concerne des marqueurs destinés au diagnostic de la perte d'audition neurosensorielle et l'utilisation de ceux-ci. L'invention concerne notamment : une composition de diagnostic de la perte d'audition neurosensorielle contenant un polynucléotide, lequel comprend une séquence nucléotidique continue qui est choisie parmi des séquences nucléotidiques dans une région exon du gène TMEM43, afin de permettre la détection de mutations du gène TMEM43, ou un polynucléotide complémentaire de celui-ci; et un procédé de détection de la mutation d'ADN génomique afin de fournir des informations pour le diagnostic. Selon un mode de réalisation de l'invention, il est possible d'utiliser un kit ou une composition pour analyser la mutation du gène TMEM43 avec une sensibilité et une précision élevées, et de diagnostiquer efficacement la perte d'audition neurosensorielle sur la base des résultats d'une telle analyse.
PCT/KR2018/012442 2017-10-19 2018-10-19 Marqueur de tmem43 destiné au diagnostic de la perte d'audition neurosensorielle et son utilisation WO2019078684A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
KR1020170135863A KR102058624B1 (ko) 2017-10-19 2017-10-19 감각신경성 난청 진단을 위한 마커 tmem43 및 그의 용도
KR10-2017-0135863 2017-10-19

Publications (3)

Publication Number Publication Date
WO2019078684A2 WO2019078684A2 (fr) 2019-04-25
WO2019078684A3 true WO2019078684A3 (fr) 2019-06-27
WO2019078684A9 WO2019078684A9 (fr) 2019-08-08

Family

ID=66173412

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/KR2018/012442 WO2019078684A2 (fr) 2017-10-19 2018-10-19 Marqueur de tmem43 destiné au diagnostic de la perte d'audition neurosensorielle et son utilisation

Country Status (2)

Country Link
KR (1) KR102058624B1 (fr)
WO (1) WO2019078684A2 (fr)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR102326582B1 (ko) 2020-05-15 2021-11-16 사회복지법인 삼성생명공익재단 청각장애의 진단용 마커 및 그의 용도
WO2022032151A1 (fr) * 2020-08-07 2022-02-10 University Of Miami Traitement de la surdité de perception
JP2024516749A (ja) * 2021-04-30 2024-04-16 ソウル ナショナル ユニバーシティ ホスピタル 感音性難聴の原因特異的治療効果を予測する方法及びそのために使用される診断キット

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
CHOI, BYUNG YOON, KIM, A R. ET AL.: "Identification of a Novel Deafness Gene Causing Autosomal Dominant Progressive Auditory Neuropathy Spectrum Disorder: a Model for Personalized Auditory Rehabilitation", 2015 INTERNATIONAL CONGRESS OF KOREAN SOCIETY OF OTORHINOLARYNGOLOGY-HEAD & NECK SURGERY, 89TH ANNUAL CONGRESS, 2015, MEETING ABSTRACT, OTOLOGY ORAL PRESENTATION VI, 2015, pages 52, XP055620375 *
GONG, T.-W L. ET AL.: "Age-Related Changes in Cochlear Gene Expression In Normal and Shaker 2 Mice", JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY, vol. 7, no. 3, 2006, pages 317 - 328, XP019387344 *
HAYWOOD, A. F. M. ET AL.: "Recurrent Missense Mutations in TMEM43 (ARVD5) Due to Founder Effects Cause Arrhythmogenic Cardiomyopathies in the UK and Canada", EUROPEAN HEART JOURNAL, vol. 34, no. 13, 2013, pages 1002 - 1011, XP055620379 *
MERNER, N. D. ET AL.: "Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene", THE AMERICAN JOURNAL OF HUMAN GENETICS, vol. 82, no. 4, 2008, pages 809 - 821, XP002524973 *
MILTING, H. ET AL.: "The TMEM43 Newfoundland Mutation p.S358L Causing ARVC-5 was Imported from Europe and Increases the Stiffness of the Cell Nucleus", EUROPEAN HEART JOURNAL, vol. 36, no. 14, pages 872 - 881, XP055620385 *

Also Published As

Publication number Publication date
KR102058624B1 (ko) 2020-01-22
WO2019078684A9 (fr) 2019-08-08
WO2019078684A2 (fr) 2019-04-25
KR20190043845A (ko) 2019-04-29

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