ArticleJournal of clinical laboratory analysis2022
Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNA
Article in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025Review
- Mitochondrial tRNAJournal of clinical laboratory analysis · 2025Article
- The Association Between Mitochondrial tRNAPharmacogenomics and personalized medicine · 2024Article
- Mitochondrial Diabetes Is Associated with theBiomolecules · 2023Article
- 4-octyl itaconate improves the viability of D66H cells by regulating the KEAP1-NRF2-GCLC/HO-1 pathway.Journal of cellular and molecular medicine · 2023Article
- Mitochondrial tRNAGln 4394C>T Mutation May Contribute to the Clinical Expression of 1555A>G-Induced DeafnessGenes · 2022Article
- Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNAJournal of clinical laboratory analysis · 2022Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundSequence alternations in mitochondrial genomes, especially in genes encoding mitochondrial tRNA (mt-tRNA), were the important contributors to nonsyndromic hearing loss (NSHL); however, the molecular mechanisms remained largely undetermined.
methodsA maternally transmitted Chinese pedigree with NSHL underwent clinical, genetic, and biochemical assessment. PCR and direct sequence analyses were performed to detect mitochondrial DNA (mtDNA), GJB2, and SLC26A4 gene mutations from matrilineal relatives of this family. Mitochondrial functions including mitochondrial membrane potential (MMP), ATP, and ROS were evaluated in polymononuclear leukocytes (PMNs) derived from three deaf patients and three controls from this pedigree.
resultsFour of nine matrilineal relatives developed hearing loss at the variable age of onset. Two putative pathogenic mutations, m.5601C>T in tRNA
conclusionOur data indicated that mt-tRNA
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Registered trials
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