Title:
PHARMACEUTICAL COMPOSITION FOR TREATING OR PREVENTING DISEASE ASSOCIATED WITH REDUCTION OR DEFECT OF τM5U MODIFICATION
Document Type and Number:
WIPO Patent Application WO/2023/282306
Kind Code:
A1
Abstract:
The present invention provides a pharmaceutical composition for treating or preventing a disease associated with the reduction or defect of the modification of 5-taurinomethyluridine (τm5U) in mitochondrial tRNA, the pharmaceutical composition containing MTO1 (mitochondrial tRNA translation optimization 1) or a nucleic acid encoding MTO1, and being configured such that an excessive amount of MTO1 is administered or MTO1 is over-expressed in a patient to whom the nucleic acid has been administered.
Inventors:
SUZUKI TSUTOMU (JP)
TOMODA ENA (JP)
SUZUKI TAKEO (JP)
NAGAO ASUTEKA (JP)
TOMODA ENA (JP)
SUZUKI TAKEO (JP)
NAGAO ASUTEKA (JP)
Application Number:
PCT/JP2022/026887
Publication Date:
January 12, 2023
Filing Date:
July 06, 2022
Export Citation:
Assignee:
UNIV TOKYO (JP)
International Classes:
A61K38/43; A61K31/7088; A61K48/00; A61P21/00; A61P25/00; A61P43/00; C07H19/067; C12N9/99; C12N15/52; C12N15/85; C12Q1/68; G01N33/15
Domestic Patent References:
| WO2020006125A1 | 2020-01-02 | |||
| WO2020172421A1 | 2020-08-27 |
Other References:
ASANO KANA, SUZUKI TAKEO, SAITO AYAKA, WEI FAN-YAN, IKEUCHI YOSHIHO, NUMATA TOMOYUKI, TANAKA RYOU, YAMANE YOSHIHISA, YAMAMOTO TAKE: "Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, GB, vol. 46, no. 4, 28 February 2018 (2018-02-28), GB , pages 1565 - 1583, XP093022582, ISSN: 0305-1048, DOI: 10.1093/nar/gky068
ENRICO BARUFFINI; CRISTINA DALLABONA; FEDERICA INVERNIZZI; JOHN W. YARHAM; LAURA MELCHIONDA; EMMA L. BLAKELY; ELEONORA LAMANTEA; C: "MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast", HUMAN MUTATION, JOHN WILEY & SONS, INC., US, vol. 34, no. 11, 17 September 2013 (2013-09-17), US , pages 1501 - 1509, XP071975268, ISSN: 1059-7794, DOI: 10.1002/humu.22393
FAKRUDDIN MD, WEI FAN-YAN, SUZUKI TAKEO, ASANO KANA, KAIEDA TAKASHI, OMORI AKIKO, IZUMI RYOMA, FUJIMURA ATSUSHI, KAITSUKA TAKU, MI: "Defective Mitochondrial tRNA Taurine Modification Activates Global Proteostress and Leads to Mitochondrial Disease", CELL REPORTS, ELSEVIER INC, US, vol. 22, no. 2, 1 January 2018 (2018-01-01), US , pages 482 - 496, XP093022585, ISSN: 2211-1247, DOI: 10.1016/j.celrep.2017.12.051
ZHANG QINGHAI, HE XIAO, YAO SHIHAO, LIN TIANXIANG, ZHANG LUWEN, CHEN DANNI, CHEN CHAO, YANG QINGXIAN, LI FENG, ZHU YI-MIN, GUAN MI: "Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, GB, vol. 49, no. 8, 7 May 2021 (2021-05-07), GB , pages 4689 - 4704, XP093022587, ISSN: 0305-1048, DOI: 10.1093/nar/gkab228
MORI, YASUMICHI: "Clinical manifestations of mitochondrial diabetes and its hopeful perspective", ENDOCRINOLOGY, DIABETOLOGY & METABOLISM, vol. 47, no. 5, 2018, pages 341 - 346
SUZUKI, T.: "The expanding world of tRNA modifications and their disease relevance", NATURE REVIEWS MOLECULAR CELL BIOLOGY, vol. 22, no. 6, 2021, pages 375 - 392, XP037464728, DOI: 10.1038/s41580-021-00342-0
SUZUKI, T.: "RNA modification and biological phenomenon", JOURNAL OF JAPANESE BIOCHEMICAL SOCIETY, vol. 92, no. 3, 2020, pages 431 - 446
KIRINO, Y.GOTO, Y.CAMPOS, Y.ARENAS, J.SUZUKI, T.: "Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease", PNAS, vol. 102, 2005, pages 7127 - 7132, XP055280643, DOI: 10.1073/pnas.0500563102
ASANO, K.SUZUKI, T.SAITO, A.WEI, F.IKEUCHI, Y.NUMATA, T.TANAKA, R.YAMANE, YYAMAMOTO, T.GOTO, T.: "Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease", NUCLEIC ACIDS RES., vol. 46, 2018, pages 1565 - 1583, XP093022582, DOI: 10.1093/nar/gky068
OKEGAWA, Y.MOTOHASHI, K.: "A simple and ultra-low cost homemade seamless ligation cloning extract (SLiCE) as an alternative to a commercially available seamless DNA cloning kit", BIOCHEM. BIOPHYS. REP., vol. 4, 2015, pages 148 - 151
SASARMAN, F.ANTONIKA, H.SHOUBRIDGE, A., E.: "The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2", HUM. MOL. GENET., vol. 17, 2008, pages 3697 - 3707
OFENGAND, J.DEL CAMPO, M.KAYA, Y.: "Mapping pseudouridines in RNA molecules", METHODS, vol. 25, 2001, pages 365 - 373, XP004432764, DOI: 10.1006/meth.2001.1249
CHOMCZYNSKI, PSACCHI, N: "Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction", ANAL BIOCHEM, vol. 162, 1987, pages 156 - 159, XP025650376, DOI: 10.1016/0003-2697(87)90021-2
YASUKAWA, T.SUZUKI, T.SUZUKI, T.UEDA, T.OHTA, S.WATANABE, K.: "Modification Defect at Anticodon Wobble Nucleotide of Mitochondrial tRNAsLeu(UUR) with Pathogenic Mutations of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 275, 2000, pages 4251 - 4257
ENRICO BARUFFINI; CRISTINA DALLABONA; FEDERICA INVERNIZZI; JOHN W. YARHAM; LAURA MELCHIONDA; EMMA L. BLAKELY; ELEONORA LAMANTEA; C: "MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast", HUMAN MUTATION, JOHN WILEY & SONS, INC., US, vol. 34, no. 11, 17 September 2013 (2013-09-17), US , pages 1501 - 1509, XP071975268, ISSN: 1059-7794, DOI: 10.1002/humu.22393
FAKRUDDIN MD, WEI FAN-YAN, SUZUKI TAKEO, ASANO KANA, KAIEDA TAKASHI, OMORI AKIKO, IZUMI RYOMA, FUJIMURA ATSUSHI, KAITSUKA TAKU, MI: "Defective Mitochondrial tRNA Taurine Modification Activates Global Proteostress and Leads to Mitochondrial Disease", CELL REPORTS, ELSEVIER INC, US, vol. 22, no. 2, 1 January 2018 (2018-01-01), US , pages 482 - 496, XP093022585, ISSN: 2211-1247, DOI: 10.1016/j.celrep.2017.12.051
ZHANG QINGHAI, HE XIAO, YAO SHIHAO, LIN TIANXIANG, ZHANG LUWEN, CHEN DANNI, CHEN CHAO, YANG QINGXIAN, LI FENG, ZHU YI-MIN, GUAN MI: "Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, GB, vol. 49, no. 8, 7 May 2021 (2021-05-07), GB , pages 4689 - 4704, XP093022587, ISSN: 0305-1048, DOI: 10.1093/nar/gkab228
MORI, YASUMICHI: "Clinical manifestations of mitochondrial diabetes and its hopeful perspective", ENDOCRINOLOGY, DIABETOLOGY & METABOLISM, vol. 47, no. 5, 2018, pages 341 - 346
SUZUKI, T.: "The expanding world of tRNA modifications and their disease relevance", NATURE REVIEWS MOLECULAR CELL BIOLOGY, vol. 22, no. 6, 2021, pages 375 - 392, XP037464728, DOI: 10.1038/s41580-021-00342-0
SUZUKI, T.: "RNA modification and biological phenomenon", JOURNAL OF JAPANESE BIOCHEMICAL SOCIETY, vol. 92, no. 3, 2020, pages 431 - 446
KIRINO, Y.GOTO, Y.CAMPOS, Y.ARENAS, J.SUZUKI, T.: "Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease", PNAS, vol. 102, 2005, pages 7127 - 7132, XP055280643, DOI: 10.1073/pnas.0500563102
ASANO, K.SUZUKI, T.SAITO, A.WEI, F.IKEUCHI, Y.NUMATA, T.TANAKA, R.YAMANE, YYAMAMOTO, T.GOTO, T.: "Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease", NUCLEIC ACIDS RES., vol. 46, 2018, pages 1565 - 1583, XP093022582, DOI: 10.1093/nar/gky068
OKEGAWA, Y.MOTOHASHI, K.: "A simple and ultra-low cost homemade seamless ligation cloning extract (SLiCE) as an alternative to a commercially available seamless DNA cloning kit", BIOCHEM. BIOPHYS. REP., vol. 4, 2015, pages 148 - 151
SASARMAN, F.ANTONIKA, H.SHOUBRIDGE, A., E.: "The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2", HUM. MOL. GENET., vol. 17, 2008, pages 3697 - 3707
OFENGAND, J.DEL CAMPO, M.KAYA, Y.: "Mapping pseudouridines in RNA molecules", METHODS, vol. 25, 2001, pages 365 - 373, XP004432764, DOI: 10.1006/meth.2001.1249
CHOMCZYNSKI, PSACCHI, N: "Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction", ANAL BIOCHEM, vol. 162, 1987, pages 156 - 159, XP025650376, DOI: 10.1016/0003-2697(87)90021-2
YASUKAWA, T.SUZUKI, T.SUZUKI, T.UEDA, T.OHTA, S.WATANABE, K.: "Modification Defect at Anticodon Wobble Nucleotide of Mitochondrial tRNAsLeu(UUR) with Pathogenic Mutations of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 275, 2000, pages 4251 - 4257
Attorney, Agent or Firm:
INABA, Yoshiyuki et al. (JP)
Download PDF: