Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

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

doi:10.1016/j.febslet.2005.04.038

Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

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

Research output: Contribution to journal › Article › peer-review

65 Citations (Scopus)

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 [τm⁵(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.

Original language	English
Pages (from-to)	2948-2952
Number of pages	5
Journal	FEBS Letters
Volume	579
Issue number	13
DOIs	https://doi.org/10.1016/j.febslet.2005.04.038
Publication status	Published - May 23 2005
Externally published	Yes

All Science Journal Classification (ASJC) codes

Biophysics
Structural Biology
Biochemistry
Molecular Biology
Genetics
Cell Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.febslet.2005.04.038

Cite this

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title = "Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases",

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(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.",

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

note = "Funding Information: We thank Dr. A. Chomyn and Dr. G. Attardi (CalTech, Pasadena, CA) for providing 143B osteosarcoma cybrid clones, and T. Nagaike (University of Tokyo) for the recombinant CCA-adding enzyme. This work was supported by grants-in-aid for scientific research on priority areas from the Ministry of Education, Science, Sports, and Culture of Japan (to T.S. and K.W.), by a JSPS Fellowship for Japanese Junior Scientists (to Y.K.), by a grant from the New Energy and Industrial Technology Development Organization (NEDO) (to T.S.) and by the Human Frontier Science Program (grant RG0349) (to T.S.). I.J.H. and H.T.J. are supported, respectively, by the UK Medical Research Council and the Academy of Finland. ",

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doi = "10.1016/j.febslet.2005.04.038",

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T1 - Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

AU - Yasukawa, Takehiro

AU - Kirino, Yohei

AU - Ishii, Norie

AU - Holt, Ian J.

AU - Jacobs, Howard T.

AU - Makifuchi, Takao

AU - Fukuhara, Nobuyoshi

AU - Ohta, Shigeo

AU - Suzuki, Tsutomu

AU - Watanabe, Kimitsuna

N1 - Funding Information: We thank Dr. A. Chomyn and Dr. G. Attardi (CalTech, Pasadena, CA) for providing 143B osteosarcoma cybrid clones, and T. Nagaike (University of Tokyo) for the recombinant CCA-adding enzyme. This work was supported by grants-in-aid for scientific research on priority areas from the Ministry of Education, Science, Sports, and Culture of Japan (to T.S. and K.W.), by a JSPS Fellowship for Japanese Junior Scientists (to Y.K.), by a grant from the New Energy and Industrial Technology Development Organization (NEDO) (to T.S.) and by the Human Frontier Science Program (grant RG0349) (to T.S.). I.J.H. and H.T.J. are supported, respectively, by the UK Medical Research Council and the Academy of Finland.

PY - 2005/5/23

Y1 - 2005/5/23

N2 - 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(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.

AB - 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(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.

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Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

Abstract

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