ArticleIrish journal of medical science2022
Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy.
Article in Irish journal of medical science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 13 citations in OpenAlex.
- Mitochondrial DNA variation and intervertebral disc degeneration: a genotypic analysis in a South African cohort.Molecular biology reports · 2025Article
- Multifaceted roles of mitochondrial dysfunction in diseases: from powerhouses to saboteurs.Archives of pharmacal research · 2023Review
- tRNA variants causing Leber's hereditary optic neuropathy?Irish journal of medical science · 2022Article
- The Mitochondrial tRNAFrontiers in genetics · 2022Article
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6 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
introductionMutations in mitochondrial DNA (mtDNA) are the most important causes for Leber's hereditary optic neuropathy (LHON). Of these, three primary mtDNA mutations account for more than 90% cases of this disease. However, to date, little is known regarding the relationship between mitochondrial tRNA (mt-tRNA) variants and LHON.
aimIn this study, we aimed to investigate the association between mt-tRNA variants and LHON. METHODOLOGY: One hundred thirty-eight LHON patients lacking three primary mutations (ND1 3460G > A, ND4 11778Gxs > A, and ND6 14484 T > C), as well as 266 controls were enrolled in this study. PCR-Sanger sequencing was performed to screen the mt-tRNA variants. Moreover, the phylogenetic analysis, pathogenicity scoring system, as well as mitochondrial functions were performed.
resultsWe identified 8 possible pathogenic variants: tRNA
conclusionOur study indicated that mt-tRNA variants were associated with LHON, and screening for mt-tRNA variants were recommended for early detection, diagnosis, and prevention of maternally inherited LHON.
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