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Start Over Descriptor "Patient tissue" Topic mitochondrial trna
2 results on '"Patient tissue"'

1. Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

Author

Yasukawa, Takehiro, Kirino, Yohei, Ishii, Norie, Holt, Ian J., Jacobs, Howard T., Makifuchi, Takao, Fukuhara, Nobuyoshi, Ohta, Shigeo, Suzuki, Tsutomu, and Watanabe, Kimitsuna

Subjects
*TRANSFER RNA, *AMINOACYL-tRNA, *ORGANS (Anatomy), *PRESERVATION of organs, tissues, etc.
Abstract

Abstract: Point mutations in mitochondrial (mt) tRNA genes are associated with a variety of human mitochondrial diseases. We have shown previously that mt tRNALeu(UUR) with a MELAS A3243G mutation and mt tRNALys with a MERRF A8344G mutation derived from HeLa background cybrid cells are deficient in normal taurine-containing modifications [τm5(s2)U; 5-taurinomethyl-(2-thio)uridine] at the anticodon wobble position in both cases. The wobble modification deficiency results in defective translation. We report here wobble modification deficiencies of mutant mt tRNAs from cybrid cells with different nuclear backgrounds, as well as from patient tissues. These findings demonstrate the generality of the wobble modification deficiency in mutant tRNAs in MELAS and MERRF. [Copyright &y& Elsevier]

Published
2005
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2. Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

Author

Kimitsuna Watanabe, Howard T. Jacobs, Yohei Kirino, Shigeo Ohta, Ian J. Holt, Takao Makifuchi, Norie Ishii, Nobuyoshi Fukuhara, Takehiro Yasukawa, and Tsutomu Suzuki

Subjects
Mitochondrial Diseases, Taurine, Post-transcriptional modification, Mitochondrial disease, Molecular Sequence Data, Mutant, Biophysics, Wobble base pair, Biology, medicine.disease_cause, Biochemistry, RNA, Transfer, Structural Biology, Genetics, medicine, Humans, Molecular Biology, Mutation, Base Sequence, Point mutation, Translation (biology), RNA Probes, Cell Biology, medicine.disease, Transfer RNA, Nucleic Acid Conformation, Patient tissue, Mitochondrial tRNA, HeLa Cells
Abstract

Point mutations in mitochondrial (mt) tRNA genes are associated with a variety of human mitochondrial diseases. We have shown previously that mt tRNA(Leu(UUR)) with a MELAS A3243G mutation and mt tRNA(Lys) with a MERRF A8344G mutation derived from HeLa background cybrid cells are deficient in normal taurine-containing modifications [taum(5)(s(2))U; 5-taurinomethyl-(2-thio)uridine] at the anticodon wobble position in both cases. The wobble modification deficiency results in defective translation. We report here wobble modification deficiencies of mutant mt tRNAs from cybrid cells with different nuclear backgrounds, as well as from patient tissues. These findings demonstrate the generality of the wobble modification deficiency in mutant tRNAs in MELAS and MERRF.

Published
2005

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