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WO2019078684A3 - Marker tmem43 for sensorineural hearing loss diagnosis, and use thereof - Google Patents

Marker tmem43 for sensorineural hearing loss diagnosis, and use thereof 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
Authority
WO
WIPO (PCT)
Prior art keywords
tmem43
hearing loss
sensorineural hearing
marker
diagnosis
Prior art date
Legal status (The legal status 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 status listed.)
Ceased
Application number
PCT/KR2018/012442
Other languages
French (fr)
Korean (ko)
Other versions
WO2019078684A9 (en
WO2019078684A2 (en
Inventor
최병윤
오두이
이창준
장민우
오수진
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Korea Institute of Science and Technology KIST
Seoul National University Hospital
Original Assignee
Korea Institute of Science and Technology KIST
Seoul National University Hospital
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 Korea Institute of Science and Technology KIST, Seoul National University Hospital filed Critical Korea Institute of Science and Technology KIST
Publication of WO2019078684A2 publication Critical patent/WO2019078684A2/en
Publication of WO2019078684A3 publication Critical patent/WO2019078684A3/en
Publication of WO2019078684A9 publication Critical patent/WO2019078684A9/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

Links

Classifications

    • 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)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Environmental Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Animal Husbandry (AREA)
  • Biodiversity & Conservation Biology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pathology (AREA)
  • Veterinary Medicine (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

The present invention relates to marker TMEM43 for sensorineural hearing loss diagnosis, and a use thereof. Specifically, the present invention relates to: a composition for diagnosing sensorineural hearing loss containing a polynucleotide, which includes a continuous nucleotide sequence that is selected from among nucleotide sequences in an exon region of the TMEM43 gene in order to enable the detection of mutations of the TMEM43 gene, or a complementary polynucleotide thereof; and a method for detecting the mutation of genomic DNA in order to provide information for diagnosis. A kit or composition according to an aspect may be used to analyze the mutation of the TMEM43 gene with high sensitivity and accuracy, and sensorineural hearing loss may be efficiently diagnosed on the basis of the results of such an analysis.
PCT/KR2018/012442 2017-10-19 2018-10-19 Marker tmem43 for sensorineural hearing loss diagnosis, and use thereof Ceased WO2019078684A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
KR1020170135863A KR102058624B1 (en) 2017-10-19 2017-10-19 Marker TMEM43 for diagnosing sensorineural hearing loss and uses thereof
KR10-2017-0135863 2017-10-19

Publications (3)

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

Family

ID=66173412

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/KR2018/012442 Ceased WO2019078684A2 (en) 2017-10-19 2018-10-19 Marker tmem43 for sensorineural hearing loss diagnosis, and use thereof

Country Status (2)

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

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR102326582B1 (en) 2020-05-15 2021-11-16 사회복지법인 삼성생명공익재단 Marker for diagnosing hearing impairment and deafness and use thereof
WO2022032151A1 (en) * 2020-08-07 2022-02-10 University Of Miami Treatment of sensorineural deafness
JP7699789B2 (en) * 2021-04-30 2025-06-30 ソウル ナショナル ユニバーシティ ホスピタル Method for predicting the effectiveness of cause-specific treatment for sensorineural hearing loss and diagnostic kit used therefor
KR20240175764A (en) * 2023-06-13 2024-12-23 서울대학교병원 Composition for predicting or diagnosing hearing loss

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
WO2019078684A9 (en) 2019-08-08
KR20190043845A (en) 2019-04-29
WO2019078684A2 (en) 2019-04-25
KR102058624B1 (en) 2020-01-22

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