Cited by 458Mitochondrial Function and PathologyRNA and protein synthesis mechanismsMetabolism and Genetic Disorders

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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

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King, M P, Koga, Y, Davidson, M, Schon, E A·1992·Molecular and Cellular Biology

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Abstract

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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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
DOI: 10.1128/mcb.12.2.480
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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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

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