Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

American Journal of Human Genetics

Volumn 90, Issue 6, 2012, Pages 1079-1087

  Ghezzi, Daniele ^a   Baruffini, Enrico ^b   Haack, Tobias B ^c,d   Invernizzi, Federica ^a   Melchionda, Laura ^a   Dallabona, Cristina ^b   Strom, Tim M ^c,d   Parini, Rossella ^e   Burlina, Alberto B ^f   Meitinger, Thomas ^c,d   Prokisch, Holger ^c,d   Ferrero, Ileana ^b   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e SAN GERARDO HOSPITAL   (Italy)

^f UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARNITINE; DICHLOROACETIC ACID; MITOCHONDRIAL DNA; PAROMOMYCIN; RIBOSOME RNA; THIAMINE; TRANSFER RNA; UBIDECARENONE; URIDINE;

ADOLESCENT; ARTICLE; BRADYCARDIA; CARDIOMEGALY; CASE REPORT; CELL RESPIRATION; ELECTROCARDIOGRAPHY; FEMALE; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LACTIC ACIDOSIS; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; MITOCHONDRION; MUSCLE BIOPSY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WILD TYPE; YEAST;

ACIDOSIS, LACTIC; BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FIBROBLASTS; HOMOZYGOTE; HUMANS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MOTHERS; MUTATION; MUTATION, MISSENSE; NUCLEIC ACID CONFORMATION; OXIDATIVE PHOSPHORYLATION; PAROMOMYCIN; PHENOTYPE; PHOSPHORYLATION; RESPIRATION; RNA, RIBOSOMAL; RNA, TRANSFER; SACCHAROMYCES CEREVISIAE;

EID: 84862129211     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.04.011     Document Type: Article

References (24)

1. T.B. Haack, K. Danhauser, B. Haberberger, J. Hoser, V. Strecker, D. Boehm, G. Uziel, E. Lamantea, F. Invernizzi, and J. Poulton Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency Nat. Genet. 42 2010 1131 1134
2. J. Nouws, L. Nijtmans, S.M. Houten, M. van den Brand, M. Huynen, H. Venselaar, S. Hoefs, J. Gloerich, J. Kronick, and T. Hutchin Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I Cell Metab. 12 2010 283 294
3. M. Gerards, B.J. van den Bosch, K. Danhauser, V. Serre, M. van Weeghel, R.J. Wanders, G.A. Nicolaes, W. Sluiter, K. Schoonderwoerd, and H.R. Scholte Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene Brain 134 2011 210 219
4. J.A. Mayr, T.B. Haack, E. Graf, F.A. Zimmermann, T. Wieland, B. Haberberger, A. Superti-Furga, J. Kirschner, B. Steinmann, and M.R. Baumgartner Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome Am. J. Hum. Genet. 90 2012 314 320
5. A. Cízková, V. Stránecký, J.A. Mayr, M. Tesarová, V. Havlícková, J. Paul, R. Ivánek, A.W. Kuss, H. Hansíková, and V. Kaplanová TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy Nat. Genet. 40 2008 1288 1290
6. G. Uziel, D. Ghezzi, and M. Zeviani Infantile mitochondrial encephalopathy Semin. Fetal Neonatal Med. 16 2011 205 215
7. A.B. Burlina, O. Milanesi, P. Biban, A. Bordugo, B. Garavaglia, F. Zacchello, and S. DiMauro Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency Eur. J. Pediatr. 152 1993 537
8. F. Invernizzi, I. D'Amato, P.B. Jensen, S. Ravaglia, M. Zeviani, and V. Tiranti Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells Mitochondrion 12 2012 328 335
9. X. Wang, Q. Yan, and M.X. Guan Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration J. Mol. Biol. 395 2010 1038 1048
10. N. Umeda, T. Suzuki, M. Yukawa, Y. Ohya, H. Shindo, K. Watanabe, and T. Suzuki Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases J. Biol. Chem. 280 2005 1613 1624
11. G. Colby, M. Wu, and A. Tzagoloff MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae J. Biol. Chem. 273 1998 27945 27952
12. Q. Yan, X. Li, G. Faye, and M.X. Guan Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA J. Biol. Chem. 280 2005 29151 29157
13. X. Wang, Q. Yan, and M.X. Guan Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae Mitochondrion 9 2009 180 185
14. Y. Qian, and M.X. Guan Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation Antimicrob. Agents Chemother. 53 2009 4612 4618
15. T.R. Prezant, J.V. Agapian, M.C. Bohlman, X. Bu, S. Oztas, W.Q. Qiu, K.S. Arnos, G.A. Cortopassi, L. Jaber, and J.I. Rotter Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness Nat. Genet. 4 1993 289 294
16. H. Zhao, R. Li, Q. Wang, Q. Yan, J.H. Deng, D. Han, Y. Bai, W.Y. Young, and M.X. Guan Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family Am. J. Hum. Genet. 74 2004 139 152
17. F. Sasarman, H. Antonicka, R. Horvath, and E.A. Shoubridge The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation Hum. Mol. Genet. 20 2011 4634 4643
18. P. Fernández-Silva, R. Acín-Pérez, E. Fernández-Vizarra, A. Pérez-Martos, and J.A. Enriquez In vivo and in organello analyses of mitochondrial translation Methods Cell Biol. 80 2007 571 588
19. A. Barrientos, D. Korr, and A. Tzagoloff Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome EMBO J. 21 2002 43 52
20. D. Ghezzi, I. Sevrioukova, F. Invernizzi, C. Lamperti, M. Mora, P. D'Adamo, F. Novara, O. Zuffardi, G. Uziel, and M. Zeviani Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor Am. J. Hum. Genet. 86 2010 639 649
21. R. Shi, M. Villarroya, R. Ruiz-Partida, Y. Li, A. Proteau, S. Prado, I. Moukadiri, A. Benítez-Páez, R. Lomas, and J. Wagner Structure-function analysis of Escherichia coli MnmG (GidA), a highly conserved tRNA-modifying enzyme J. Bacteriol. 191 2009 7614 7619
22. X. Li, R. Li, X. Lin, and M.X. Guan Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation J. Biol. Chem. 277 2002 27256 27264
23. A. Zeharia, A. Shaag, O. Pappo, A.M. Mager-Heckel, A. Saada, M. Beinat, O. Karicheva, H. Mandel, N. Ofek, and R. Segel Acute infantile liver failure due to mutations in the TRMU gene Am. J. Hum. Genet. 85 2009 401 407
24. J. Uusimaa, H. Jungbluth, C. Fratter, G. Crisponi, L. Feng, M. Zeviani, I. Hughes, E.P. Treacy, J. Birks, and G.K. Brown Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease J. Med. Genet. 48 2011 660 668