BR112023024705A2 - Aprimoramento mediado por canal de k+ com portão para proteína g em sensibilidade à luz na distrofia de cones e bastonetes (rcd) - Google Patents

Aprimoramento mediado por canal de k+ com portão para proteína g em sensibilidade à luz na distrofia de cones e bastonetes (rcd)

Info

Publication number
BR112023024705A2
BR112023024705A2 BR112023024705A BR112023024705A BR112023024705A2 BR 112023024705 A2 BR112023024705 A2 BR 112023024705A2 BR 112023024705 A BR112023024705 A BR 112023024705A BR 112023024705 A BR112023024705 A BR 112023024705A BR 112023024705 A2 BR112023024705 A2 BR 112023024705A2
Authority
BR
Brazil
Prior art keywords
rcd
channel
light sensitivity
protein
cones
Prior art date
Application number
BR112023024705A
Other languages
English (en)
Inventor
Brix Mucher
Deniz Dalkara
Hanen Khabou
Stefan Herlitze
Original Assignee
Centre Nat Rech Scient
Inst Nat Sante Rech Med
Univ Ruhr Bochum
Univ Sorbonne
Sparingvision
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 Centre Nat Rech Scient, Inst Nat Sante Rech Med, Univ Ruhr Bochum, Univ Sorbonne, Sparingvision filed Critical Centre Nat Rech Scient
Publication of BR112023024705A2 publication Critical patent/BR112023024705A2/pt

Links

Classifications

    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • 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
    • C12N5/00—Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
    • C12N5/06—Animal cells or tissues; Human cells or tissues
    • C12N5/0602—Vertebrate cells
    • C12N5/0618—Cells of the nervous system
    • C12N5/0621—Eye cells, e.g. cornea, iris pigmented cells
    • 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
    • A01K2207/00—Modified animals
    • A01K2207/15—Humanized animals
    • 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
    • A01K2217/00—Genetically modified animals
    • A01K2217/15—Animals comprising multiple alterations of the genome, by transgenesis or homologous recombination, e.g. obtained by cross-breeding
    • 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
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • 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
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/008—Vector systems having a special element relevant for transcription cell type or tissue specific enhancer/promoter combination
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/48—Vector systems having a special element relevant for transcription regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

Landscapes

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

Abstract

aprimoramento mediado por canal de k+ com portão para proteína g em sensibilidade à luz na distrofia de cones e bastonetes (rcd). a presente invenção refere-se a uma nova abordagem de terapia gênica para aumentar a sensibilidade à luz em cones degenerados em estágios avançados de distrofia de cones e bastonetes (rcd) mediada pelo canal k+ com portão para proteína g (girk), em particular girk1 f137s, ativado por proteínas g recrutadas pela opsina de cone expressas em cones em degeneração.
BR112023024705A 2021-05-26 2022-05-25 Aprimoramento mediado por canal de k+ com portão para proteína g em sensibilidade à luz na distrofia de cones e bastonetes (rcd) BR112023024705A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP21305686 2021-05-26
PCT/EP2022/064349 WO2022248634A1 (en) 2021-05-26 2022-05-25 G-protein-gated-k+ channel-mediated enhancements in light sensitivity in rod-cone dystrophy (rcd)

Publications (1)

Publication Number Publication Date
BR112023024705A2 true BR112023024705A2 (pt) 2024-02-15

Family

ID=76502687

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112023024705A BR112023024705A2 (pt) 2021-05-26 2022-05-25 Aprimoramento mediado por canal de k+ com portão para proteína g em sensibilidade à luz na distrofia de cones e bastonetes (rcd)

Country Status (9)

Country Link
EP (1) EP4347848A1 (pt)
JP (1) JP2024520558A (pt)
KR (1) KR20240035759A (pt)
CN (1) CN117716043A (pt)
AU (1) AU2022283585A1 (pt)
BR (1) BR112023024705A2 (pt)
CA (1) CA3221439A1 (pt)
IL (1) IL308832A (pt)
WO (1) WO2022248634A1 (pt)

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
DK2699270T3 (en) 2011-04-22 2017-10-02 Univ California ADENO-ASSOCIATED VIRUS VIRUSES WITH VARIANT CAPSID AND METHODS FOR USING IT
CN106414474B (zh) 2014-03-17 2021-01-15 阿德夫拉姆生物技术股份有限公司 用于视锥细胞中增强的基因表达的组合物和方法
US20200032203A1 (en) 2016-09-22 2020-01-30 Sorbonne Universite Optogenetically transformed photoreceptor precursor cells for the use in the treatment of retinal degenerative diseases
EP3570895A1 (en) 2017-01-17 2019-11-27 INSERM (Institut National de la Santé et de la Recherche Médicale) Methods of expressing a polynucleotide of interest in the cone photoreceptors
JP7420710B2 (ja) * 2017-10-20 2024-01-23 アンセルム（アンスティチュート・ナシオナル・ドゥ・ラ・サンテ・エ・ドゥ・ラ・ルシェルシュ・メディカル） 組換えａａｖ９由来ベクターの治療有効量の網膜下送達を含む、対象の錐体視細胞において目的のポリヌクレオチドを発現させる方法
CN111417339A (zh) * 2017-11-13 2020-07-14 加利福尼亚大学董事会 用于增强视功能的组合物和方法

Also Published As

Publication number Publication date
KR20240035759A (ko) 2024-03-18
WO2022248634A1 (en) 2022-12-01
CA3221439A1 (en) 2022-12-01
JP2024520558A (ja) 2024-05-24
CN117716043A (zh) 2024-03-15
EP4347848A1 (en) 2024-04-10
AU2022283585A1 (en) 2023-12-21
IL308832A (en) 2024-01-01

Similar Documents

Publication Publication Date Title
Frasca et al. Cytomegalovirus (CMV) seropositivity decreases B cell responses to the influenza vaccine
Wang et al. Mitochondria-localised ZNFX1 functions as a dsRNA sensor to initiate antiviral responses through MAVS
Avgousti et al. A core viral protein binds host nucleosomes to sequester immune danger signals
Cheong et al. Influenza A virus NS1 protein inhibits the NLRP3 inflammasome
BR112017018821A2 (pt) métodos para quantificação de níveis de insulina através de espectrometria de massa
BR112018009491A2 (pt) vidraça compósita iluminável
Kubben et al. Identification of differential protein interactors of lamin A and progerin
BR112012008537A2 (pt) processo de caracterização de pelo menos um micro-organismo por espectrometria de massa
BR112018007318A2 (pt) anticorpo isolado ou fragmento de ligação a antígeno, composição farmacêutica, e, métodos para tratar uma doença ou condição.
BRPI0610796B8 (pt) anticorpo humano ou humanizado isolado, ou um fragmento fab ou scfv do mesmo, sequência de ácidos nucleicos, vetor, e, uso de um anticorpo
BR112015010125A2 (pt) Anticorpo isolado ou seu fragmento de ligação, composição, ácido nucleico isolado, métodos de determinação da presença de s. aureus em uma amostra de teste, de tratamento de uma infecção por s. aureus em um paciente, de prevenção ou redução da gravidade de sepsia associada a s. aureus em um paciente, de atraso do início de sepsia associada a infecção por s. aureus em um paciente, de prevenção do início de sepsia associada a infecção por s. aureus em um paciente, de redução de carga bacteriana de s. aureus na corrente sanguínea ou coração em um paciente, e de redução da aglutinação bacteriana de s. aureus e/ou formação de lesões tromboembólicas em um paciente
BR112018011649A2 (pt) dispositivo, kit e método para verificar um pneu
CO2017011975A2 (es) Proteína de unión a rgma
Baruah et al. Identification of a novel splice variant isoform of TREM-1 in human neutrophil granules
BR112018009242A2 (pt) dispositivo de exibição e método para controlar um dispositivo de exibição
BR112023024705A2 (pt) Aprimoramento mediado por canal de k+ com portão para proteína g em sensibilidade à luz na distrofia de cones e bastonetes (rcd)
BR112016019057A2 (pt) método de induzir uma resposta imune contra uma doença em um indivíduo
BR112018067747A2 (pt) proteínas de fusão recombinantes de folistatina-fc e uso no tratamento da distrofia muscular de duchenne
Othman et al. Olfactory dysfunction as a post-infectious symptom of SARS-CoV-2 infection
Drannik et al. Cerebrospinal fluid from patients with amyotrophic lateral sclerosis inhibits sonic hedgehog function
Ruan et al. miR‑107 promotes the erythroid differentiation of leukemia cells via the downregulation of Cacna2d1
PE20190371A1 (es) Anticuerpos de interferon beta y usos de los mismos
Fraisier et al. High-mobility group box-1, promising serological biomarker for the distinction of human WNV disease severity
Zuo et al. Overexpression of ATP5b promotes cell proliferation in asthma
Tantilipikorn et al. Endotyping of chronic rhinosinusitis with and without polyp using transcription factor analysis