The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
Open accessAbstract
Cytoplasts from two unrelated patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) harboring an A----G transition at nucleotide position 3243 in the tRNA(Leu(UUR)) gene of the mitochondrial genome were fused with human cells lacking endogenous mitochondrial DNA (mtDNA) (rho 0 cells). Selected cybrid lines, containing less than 15 or greater than or equal to 95% mutated genomes, were examined for differences in genetic, biochemical, and morphological characteristics. Cybrids containing greater than or equal to 95% mutant mtDNA, but not those containing normal mtDNA, exhibited decreases in the rates of synthesis and in the steady-state levels of the mitochondrial translation products. In addition, NADH dehydrogenase subunit 1 (ND 1) exhibited a slightly altered mobility on polyacrylamide gel electrophoresis. The mutation also correlated with a severe respiratory chain deficiency. A small but consistent increase in the steady-state levels of an RNA transcript corresponding to 16S rRNA + tRNA(Leu(UUR)) + ND 1 genes was detected. However, there was no evidence of major errors in processing of the heavy-strand-encoded transcripts or of altered steady-state levels or ratios of mitochondrial rRNAs or mRNAs. These results provide evidence for a direct relationship between the tRNALeu(UUR) mutation and the pathogenesis of this mitochondrial disease.
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“Correct transcription of 16S mt-rRNA is impaired by the common mt-tRNA Leu(UUR) m.3243A N G mutation, which interferes with a transcription termination site located at the boundary of the 16S mt-rRNA and mt-tRNA Leu(UUR) genes, causing accumulation of an unprocessed RNA intermediate (RNA19) including 16S mt-rRNA, mt-tRNA Leu(UUR) and MTND1 [191][192][193].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [192]
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The mitochondrial genome: structure, transcription, translation and replication
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Self-citationBcl-2 blocks apoptosis in cells lacking mitochondrial DNA
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Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676
Metadata
- Authors
- King, M. P., Koga, Y., Davidson, M., & Schon, E. A.
- Affiliations
- Columbia University (US)
- ORCID
- Koga, Y
- Venue
- Molecular and Cellular Biology
- Publisher
- Informa UK Limited
- Published
- 1992-02
- Volume
- 12
- Issue
- 2
- Pages
- 480-490
- ISSN
- 0270-7306 (ISSN-L)
- 1098-5549
- PMC
- PMC364194
- OpenAlex
- W1877954338
- Cited by
- 458
- References
- 44
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 11 · 2023: 5 · 2022: 8 · 2021: 12 · 2020: 8 · 2019: 7 · 2018: 6 · 2017: 10 · 2016: 3 · 2015: 8 · 2014: 11 · 2013: 10 · 2012: 14
- FWCI
- 10.20
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular and Cellular Biology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Muscular Dystrophy Association
- New York Academy of Medicine
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (R01NS028828, NS 28828)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- MELAS, mitochondrial myopathy, mitochondrial DNA, mitochondrial translation, respiratory chain deficiency, cybrid cells, ND1, 12S rRNA, pathogenesis, lactic acidosis
- MeSH terms
- Acidosis, Lactic, Adolescent, Brain Diseases, Metabolic, Cell Line, Cerebrovascular Disorders, Child, DNA, Mitochondrial, Female, Humans, Hybrid Cells, Immunohistochemistry, Mitochondria, Mutation, Oxygen Consumption, RNA, Transfer, Leu, Syndrome, Protein Biosynthesis, Blotting, Northern
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