CL2021000747A1 - Métodos y composiciones para aumentar la expresión de proteína y / o tratar un trastorno de haploinsuficiencia - Google Patents

Métodos y composiciones para aumentar la expresión de proteína y / o tratar un trastorno de haploinsuficiencia

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Publication number
CL2021000747A1
CL2021000747A1 CL2021000747A CL2021000747A CL2021000747A1 CL 2021000747 A1 CL2021000747 A1 CL 2021000747A1 CL 2021000747 A CL2021000747 A CL 2021000747A CL 2021000747 A CL2021000747 A CL 2021000747A CL 2021000747 A1 CL2021000747 A1 CL 2021000747A1
Authority
CL
Chile
Prior art keywords
compositions
treating
methods
protein expression
increasing protein
Prior art date
Application number
CL2021000747A
Other languages
English (en)
Inventor
Jeffery M Coller
Thomas Sweet
Harvey Lodish
Original Assignee
Univ Case Western Reserve
Whitehead Inst Biomedical Res
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 Univ Case Western Reserve, Whitehead Inst Biomedical Res filed Critical Univ Case Western Reserve
Publication of CL2021000747A1 publication Critical patent/CL2021000747A1/es

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/67—General methods for enhancing the expression
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
    • A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A61K48/0066—Manipulation of the nucleic acid to modify its expression pattern, e.g. enhance its duration of expression, achieved by the presence of particular introns in the delivered nucleic acid
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/08—Antiepileptics; Anticonvulsants
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86—Viral vectors
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/34—Allele or polymorphism specific uses
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2330/00—Production
    • C12N2330/50—Biochemical production, i.e. in a transformed host cell
    • C12N2330/51—Specially adapted vectors
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Biomedical Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Epidemiology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Pain & Pain Management (AREA)
  • Virology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)

Abstract

Se puede usar un ARNt que se hibrida con un codón no óptimo para aumentar la expresión en una célula de mamífero de un producto génico codificado por un gen que contiene el codón no óptimo o para tratar un trastorno de haploinsuficiencia en un sujeto que tiene un gen haploinsuficiente que contiene el codón no óptimo. -codón óptimo.
CL2021000747A 2018-09-26 2021-03-25 Métodos y composiciones para aumentar la expresión de proteína y / o tratar un trastorno de haploinsuficiencia CL2021000747A1 (es)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201862736847P 2018-09-26 2018-09-26

Publications (1)

Publication Number Publication Date
CL2021000747A1 true CL2021000747A1 (es) 2021-10-22

Family

ID=69949913

Family Applications (1)

Application Number Title Priority Date Filing Date
CL2021000747A CL2021000747A1 (es) 2018-09-26 2021-03-25 Métodos y composiciones para aumentar la expresión de proteína y / o tratar un trastorno de haploinsuficiencia

Country Status (15)

Country Link
US (1) US20220073933A1 (es)
EP (1) EP3856905A4 (es)
JP (1) JP2022502044A (es)
KR (1) KR20210091699A (es)
CN (1) CN113195719A (es)
AU (1) AU2019350871A1 (es)
BR (1) BR112021005788A2 (es)
CA (1) CA3114109A1 (es)
CL (1) CL2021000747A1 (es)
CO (1) CO2021005040A2 (es)
EA (1) EA202190736A1 (es)
IL (1) IL281848A (es)
MX (1) MX2021003567A (es)
WO (1) WO2020069199A1 (es)
ZA (1) ZA202102302B (es)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115003810A (zh) * 2019-11-04 2022-09-02 旗舰创业股份有限公司 用于con-稀有密码子的trem组合物及相关用途
MX2022015042A (es) * 2020-05-29 2023-03-09 Flagship Pioneering Innovations Vi Llc Composiciones de trem y métodos relacionados con las mismas.
CA3182026A1 (en) * 2020-05-29 2021-12-02 Flagship Pioneering Innovations Vi, Llc. Trem compositions and methods relating thereto
TW202405173A (zh) 2022-04-18 2024-02-01 美商維泰克斯製藥公司 用於增強aav療法及降低aav向肝臟之趨性的組合物及方法
CN117257958B (zh) * 2023-11-21 2024-02-09 四川大学华西医院 Trps1抑制剂的新用途及用于治疗和/或预防雄激素性秃发的药物

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WO2000015775A1 (en) * 1998-09-17 2000-03-23 Smithkline Beecham Corporation Rnase p polypeptides
US20040142325A1 (en) * 2001-09-14 2004-07-22 Liat Mintz Methods and systems for annotating biomolecular sequences
CA2773983A1 (en) * 2009-09-11 2011-03-17 University Of Utah Research Foundation Mutant sodium channel nav1.7 and methods related thereto
US9676810B2 (en) * 2010-07-08 2017-06-13 The Brigham And Women's Hospital, Inc. Neuroprotective molecules and methods of treating neurological disorders and inducing stress granules
WO2013033627A2 (en) * 2011-09-01 2013-03-07 The Regents Of The University Of California Diagnosis and treatment of arthritis using epigenetics
CA2922005A1 (en) * 2012-09-27 2014-04-03 Population Diagnostics, Inc. Methods and compositions for screening and treating developmental disorders
EP3052624A1 (en) * 2013-10-02 2016-08-10 Wageningen Universiteit Systematic optimization of coding sequence for functional protein expression
US20180313836A1 (en) * 2015-10-15 2018-11-01 The Scripps Research Institute BINDING ACTIVITY OF AMINOACYL-tRNA SYNTHETASE IN CHARCOT-MARIE-TOOTH (CMT) NEUROPATHY AND CMT-RELATED NEUROLOGICAL DISEASES
SG11201804443UA (en) * 2015-12-14 2018-06-28 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and dravet syndrome
WO2017193051A1 (en) * 2016-05-06 2017-11-09 The Trustees Of Princeton University Methods of monitoring rnase l activity
DK3458074T3 (da) * 2016-05-16 2024-07-29 Univ Texas COMPOSITIONS FOR THE DELIVERY OF tRNA AS NANOPARTICLES AND METHODS OF USE THEREWITH
WO2018104385A1 (en) * 2016-12-07 2018-06-14 MAX-PLANCK-Gesellschaft zur Förderung der Wissenschaften e.V. Codon optimization
EP3976782A1 (en) * 2019-05-31 2022-04-06 Flagship Pioneering, Inc. Uses of trem compositions to modulate trna pools

Also Published As

Publication number Publication date
EP3856905A4 (en) 2023-06-21
CA3114109A1 (en) 2020-04-02
BR112021005788A2 (pt) 2021-10-26
EA202190736A1 (ru) 2021-09-16
WO2020069199A1 (en) 2020-04-02
KR20210091699A (ko) 2021-07-22
CN113195719A (zh) 2021-07-30
ZA202102302B (en) 2022-04-28
EP3856905A1 (en) 2021-08-04
CO2021005040A2 (es) 2021-09-20
JP2022502044A (ja) 2022-01-11
AU2019350871A1 (en) 2021-05-20
IL281848A (en) 2021-05-31
US20220073933A1 (en) 2022-03-10
MX2021003567A (es) 2021-08-24

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