Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
LHON
mtDNA
mutation
tRNA
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
revised:
20
06
2022
received:
20
01
2022
accepted:
05
07
2022
pubmed:
10
7
2022
medline:
9
9
2022
entrez:
9
7
2022
Statut:
ppublish
Résumé
Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA-encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.
Identifiants
pubmed: 35808913
doi: 10.1111/cge.14189
pmc: PMC9543827
doi:
Substances chimiques
DNA, Mitochondrial
0
RNA, Transfer
9014-25-9
Electron Transport Complex I
EC 7.1.1.2
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
339-344Informations de copyright
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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