Queuine ameliorates impaired mitochondrial function caused by mt-tRNA
Mitochondrial disease
Queuine
Therapy
m.5708C > T
mt-tRNAAsn
Journal
Journal of translational medicine
ISSN: 1479-5876
Titre abrégé: J Transl Med
Pays: England
ID NLM: 101190741
Informations de publication
Date de publication:
22 Aug 2024
22 Aug 2024
Historique:
received:
09
06
2024
accepted:
04
08
2024
medline:
23
8
2024
pubmed:
23
8
2024
entrez:
22
8
2024
Statut:
epublish
Résumé
Mitochondrial tRNA (mt-tRNA) variants have been found to cause disease. Post-transcriptional queuosine (Q) modifications of mt-tRNA can promote efficient mitochondrial mRNA translation. Q modifications of mt-tRNA Six patients (from four families) carrying mt-tRNA The variants included the m.5701 delA, m.5708 C > T, m.5709 C > T, and m.5698 G > A variants in mt-tRNA The study not only confirmed the pathogenicity of the m.5708 C > T variant but also explored the therapeutic potential of queuine in individuals with mt-tRNA
Sections du résumé
BACKGROUND
BACKGROUND
Mitochondrial tRNA (mt-tRNA) variants have been found to cause disease. Post-transcriptional queuosine (Q) modifications of mt-tRNA can promote efficient mitochondrial mRNA translation. Q modifications of mt-tRNA
METHODS
METHODS
Six patients (from four families) carrying mt-tRNA
RESULTS
RESULTS
The variants included the m.5701 delA, m.5708 C > T, m.5709 C > T, and m.5698 G > A variants in mt-tRNA
CONCLUSIONS
CONCLUSIONS
The study not only confirmed the pathogenicity of the m.5708 C > T variant but also explored the therapeutic potential of queuine in individuals with mt-tRNA
Identifiants
pubmed: 39175050
doi: 10.1186/s12967-024-05574-0
pii: 10.1186/s12967-024-05574-0
doi:
Substances chimiques
DNA, Mitochondrial
0
Nucleoside Q
57072-36-3
RNA, Mitochondrial
0
RNA, Transfer, Ala
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
780Subventions
Organisme : National Natural Science Foundation of China
ID : 82171394
Organisme : National Natural Science Foundation of China
ID : 82071412
Organisme : National Natural Science Foundation of China
ID : 82301590
Organisme : Grants from the National Key R&D Program of China
ID : 2021YFC2700904
Organisme : Natural Science Foundation of Shandong Province
ID : ZR2023QH106
Organisme : China Postdoctoral Science Foundation
ID : 2023M742116
Organisme : Shandong Provincial Postdoctoral Innovation Talent Support Program
ID : SDBX2022061
Organisme : Key R&D Program of Shandong Province
ID : 2022ZLGX03
Informations de copyright
© 2024. The Author(s).
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