신경퇴행성 장애의 치료를 위한 치료제

• Main Authors: FRATTA PIETRO, HILL SARAH, BROWN ANNA LEIGH, KEUSS MATTHEW, WILKINS OSCAR, WARD MICHAEL
• Format: Patent
• Language: Korean
• Published: 14.08.2023
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; HUMAN NECESSITIES; HYGIENE; MEDICAL OR VETERINARY SCIENCE; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS; SPIRITS; VINEGAR; WINE

UNC13A 성숙한 mRNA로의 UNC13A 크립틱 엑손 포함을 방지함으로써 스플라이싱을 조정할 수 있는 안티센스 올리고뉴클레오티드 (ASO)를 제공한다. 상기 ASO는 예를 들어, 신경퇴행성 장애, 특히, TDP-43 병리와 연관된 장애를 치료하기 위한 의약으로서 사용될 수 있다. An anti-sense oligonucleotide (ASO) including a nucleotide sequence of 13-30 nucleotides, wherein the nucleotide sequence has sequence complementarity with SEQ ID NO 1 and is capable of modulating splicing by preventing inclusion of an UNC13A cryptic exon into an UNC13A mature mRNA. Guide RNAs including the ASO for use in CRISPR, CAs13 nuclease mediated gene regulation, and viral vectors expressing the ASO are also described. The ASOs and guide RNAs may be used as a medicament, for example, to treat neurodegenerative disorders, particularly those associated with TDP-43 pathology including ALS, fronto temporal dementia(FTD),Alzheimer's disease, Parkinson's disease, FOSMN, Perry Syndrome, or any combination thereof.