Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy.

Szczegóły
Abstrakt

Tytuł:: Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy.
Autorzy:: Kim YJ; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA.; Graduate Program in Genetics, Stony Brook University, Stony Brook, NY, 11794, USA.; Medical Scientist Training Program, Stony Brook University School of Medicine, Stony Brook, NY, 11794, USA.
Nomakuchi T; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA.; Medical Scientist Training Program, Stony Brook University School of Medicine, Stony Brook, NY, 11794, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Papaleonidopoulou F; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA.; Francis Crick Institute, London, 1140062, UK.
Yang L; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA.; Graduate Program in Genetics, Stony Brook University, Stony Brook, NY, 11794, USA.; Medical Scientist Training Program, Stony Brook University School of Medicine, Stony Brook, NY, 11794, USA.
Zhang Q; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA.; Graduate Program in Molecular and Cell Biology, Stony Brook University, Stony Brook, NY, 11794, USA.
Krainer AR; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA. .
Źródło:: Nature communications [Nat Commun] 2022 May 27; Vol. 13 (1), pp. 2978. Date of Electronic Publication: 2022 May 27.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Język:: English
Imprint Name(s):: Original Publication: [London] : Nature Pub. Group
MeSH Terms:: Cystic Fibrosis*/drug therapy
Cystic Fibrosis*/genetics
Nonsense Mediated mRNA Decay*
Codon, Nonsense/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Humans ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/metabolism ; Oligonucleotides, Antisense/pharmacology ; RNA, Messenger/metabolism
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Grant Information:: R37 GM042699 United States GM NIGMS NIH HHS; T32 GM008444 United States GM NIGMS NIH HHS; F30 HL137326 United States HL NHLBI NIH HHS; P30 CA045508 United States CA NCI NIH HHS; R01 GM042699 United States GM NIGMS NIH HHS
Substance Nomenclature:: 0 (Codon, Nonsense)
0 (Oligonucleotides, Antisense)
0 (RNA, Messenger)
126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator)
Entry Date(s):: Date Created: 20220527 Date Completed: 20220531 Latest Revision: 20220821
Update Code:: 20240104
PubMed Central ID:: PMC9142507
DOI:: 10.1038/s41467-022-30668-y
PMID:: 35624092
: Czasopismo naukowe

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Low CFTR mRNA expression due to nonsense-mediated mRNA decay (NMD) is a major hurdle in developing a therapy for cystic fibrosis (CF) caused by the W1282X mutation in the CFTR gene. CFTR-W1282X truncated protein retains partial function, so increasing its levels by inhibiting NMD of its mRNA will likely be beneficial. Because NMD regulates the normal expression of many genes, gene-specific stabilization of CFTR-W1282X mRNA expression is more desirable than general NMD inhibition. Synthetic antisense oligonucleotides (ASOs) designed to prevent binding of exon junction complexes (EJC) downstream of premature termination codons (PTCs) attenuate NMD in a gene-specific manner. We describe cocktails of three ASOs that specifically increase the expression of CFTR-W1282X mRNA and CFTR protein upon delivery into human bronchial epithelial cells. This treatment increases the CFTR-mediated chloride current. These results set the stage for clinical development of an allele-specific therapy for CF caused by the W1282X mutation.
(© 2022. The Author(s).)

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