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

TitleWobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases.
Publication TypeJournal Article
Year of Publication2005
AuthorsYasukawa, T, Kirino, Y, Ishii, N, Holt, IJ, Jacobs, HT, Makifuchi, T, Fukuhara, N, Ohta, S, Suzuki, T, Watanabe, K
JournalFEBS Lett
Volume579
Issue13
Pagination2948-52
Date Published2005 May 23
ISSN0014-5793
KeywordsBase Sequence, HeLa Cells, Humans, Mitochondrial Diseases, Molecular Sequence Data, Mutation, Nucleic Acid Conformation, RNA Probes, RNA, Transfer
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.

DOI10.1016/j.febslet.2005.04.038
Alternate JournalFEBS Lett.
Citation Key10.1016/j.febslet.2005.04.038
PubMed ID15893315
Grant ListMC_U105663140 / / Medical Research Council / United Kingdom