ArticleNucleic acids research2006
Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene.
Article in Nucleic acids research, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 29 citations in OpenAlex.
- Human mtDNA-Encoded Long ncRNAs: Knotty Molecules and Complex Functions.International journal of molecular sciences · 2024Review
- Molecular Investigation of Mitochondrial RNA19 Role in the Pathogenesis of MELAS Disease.Life (Basel, Switzerland) · 2023Article
- Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302A>G mutation in the MT‑TL1 gene: A case report.Experimental and therapeutic medicine · 2023Article
- Potential Roles of mtDNA Mutations in PCOS-IR: A Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Review
- Exposure to a Pathological Condition May Be Required for the Cells to Secrete Exosomes Containing mtDNA Aberration.Journal of nucleic acids · 2022Article
- Exploring the Ability of LARS2 Carboxy-Terminal Domain in Rescuing the MELAS Phenotype.Life (Basel, Switzerland) · 2021Article
- High glucose uptake unexpectedly is accompanied by high levels of the mitochondrial ß-F1-ATPase subunit in head and neck squamous cell carcinoma.Oncotarget · 2015Article
- Simultaneous DNA and RNA Mapping of Somatic Mitochondrial Mutations across Diverse Human Cancers.PLoS genetics · 2015Article
- Transferring isolated mitochondria into tissue culture cells.Nucleic acids research · 2012Article
- Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.Journal of inherited metabolic disease · 2010Article
- Human mitochondrial transcription revisited: only TFAM and TFB2M are required for transcription of the mitochondrial genes in vitro.The Journal of biological chemistry · 2010Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
The gene encoding mt-tRNA(Leu(UUR)), MT-TL1, is a hotspot for pathogenic mtDNA mutations. Amongst the first to be described was the 3302A>G transition which resulted in a substantial accumulation in patient muscle of RNA19, an unprocessed RNA intermediate including mt-16S rRNA, mt-tRNA(Leu(UUR)) and MTND1. We have now been able to further assess the molecular aetiology associated with 3302A>G in transmitochondrial cybrids. Increased steady-state levels of RNA19 was confirmed, although not to the levels previously reported in muscle. This data was consistent with an increase in RNA19 stability. The mutation resulted in decreased mt-tRNA(Leu(UUR)) levels, but its stability was unchanged, consistent with a defect in RNA19 processing responsible for low tRNA levels. A partial defect in aminoacylation was also identified, potentially caused by an alteration in tRNA structure. These deficiencies lead to a severe defect in respiration in the transmitochondrial cybrids, consistent with the profound mitochondrial disorder originally associated with this mutation.
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Registered trials
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