Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts

Human Molecular Genetics

Volumn 23, Issue 13, 2014, Pages 3618-3628

  Deutschmann, Andrea J ^a   Amberger, Albert ^a   Zavadil, Claudia ^a   Steinbeisser, Herbert ^b   Mayr, Johannes A ^c   Feichtinger, René G ^c   Oerum, Stephanie ^d   Yue, Wyatt W ^d   Zschocke, Johannes ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

17BETA HYDROXYSTEROID DEHYDROGENASE TYPE 10; METHYLTRANSFERASE; MITOCHONDRIAL RNA; MRPP1 PROTEIN; MRPP3 PROTEIN; RIBONUCLEASE P; TESTOSTERONE 17BETA DEHYDROGENASE; TRANSFER RNA; UNCLASSIFIED DRUG; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; HSD17B10 PROTEIN, HUMAN; TRMT10C PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE MUTATION; GENE SILENCING; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IN VITRO STUDY; MITOCHONDRION; PRECURSOR; PRIORITY JOURNAL; PROTEIN CONTENT; PROTEIN DEPLETION; PROTEIN EXPRESSION; RNA PROCESSING; RNA TRANSCRIPTION; CYTOLOGY; GENETICS; METABOLISM; MUTATION;

3-HYDROXYACYL COA DEHYDROGENASES; FIBROBLASTS; HUMANS; METHYLTRANSFERASES; MUTATION; RIBONUCLEASE P; RNA, TRANSFER;

EID: 84902341648     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu072     Document Type: Article

References (32)

1. Zschocke, J. (2012) HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. J. Inherit. Metab. Dis., 35, 81-89.
2. Zschocke, J., Ruiter, J.P., Brand, J., Lindner, M., Hoffmann, G.F., Wanders, R.J. and Mayatepek, E. (2000) Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr. Res., 48, 852-855.
3. Ofman, R., Ruiter, J.P., Feenstra, M., Duran, M., Poll-The, B.T., Zschocke, J., Ensenauer, R., Lehnert, W., Sass, J.O., Sperl, W. et al. (2003) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am. J. Hum.Genet., 72, 1300-1307.
4. Perez-Cerda, C., Garcia-Villoria, J., Ofman, R., Sala, P.R., Merinero, B., Ramos, J., Garcia-Silva, M.T., Beseler, B., Dalmau, J., Wanders, R.J. et al. (2005) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr. Res., 58, 488-491.
5. Yang, S.Y., He, X.Y. and Miller, D. (2007) HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. Mol. Genet. Metab., 92, 36-42.
6. Yang, S.Y., He, X.Y. and Schulz, H. (2005) Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase. Trends Endocrinol. Metab., 16, 167-175.
7. Olpin, S.E., Pollitt, R.J., McMenamin, J., Manning, N.J., Besley, G., Ruiter, J.P. and Wanders, R.J. (2002) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man. J. Inherit. Metab. Dis., 25, 477-482.
8. Rauschenberger, K., Scholer, K., Sass, J.O., Sauer, S., Djuric, Z., Rumig, C., Wolf, N.I., Okun, J.G., Kolker, S., Schwarz, H. et al. (2010) A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol. Med., 2, 51-62.
9. Copley, S.D. (2012) Moonlighting is mainstream: paradigm adjustment required. Bioessays, 34, 578-588.
10. Holzmann, J., Frank, P., Loffler, E., Bennett, K.L., Gerner, C. and Rossmanith, W. (2008) RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. Cell, 135, 462-474.
11. Holzmann, J. and Rossmanith,W.(2009) tRNArecognition, processing, and disease: hypotheses around an unorthodox type of RNase P in human mitochondria. Mitochondrion, 9, 284-288.
12. Vilardo, E., Nachbagauer, C., Buzet, A., Taschner, A., Holzmann, J. and Rossmanith, W. (2012)Asubcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis. Nucleic Acids Res., 40, 11583-11593.
13. Pfaffl, M.W. (2001)Anew mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res., 29, e45.
14. Maniura-Weber, K., Helm, M., Engemann, K., Eckertz, S., Mollers, M., Schauen, M., Hayrapetyan, A., von Kleist-Retzow, J.C., Lightowlers, R.N., Bindoff, L.A. et al. (2006) Molecular dysfunction associated with the human mitochondrial 3302A.G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene. Nucleic Acids Res., 34, 6404-6415.
15. Sanchez, M.I., Mercer, T.R., Davies, S.M., Shearwood, A.M., Nygard, K.K., Richman, T.R., Mattick, J.S., Rackham, O. and Filipovska, A. (2011) RNA processing in human mitochondria. Cell Cycle, 10, 2904-2916.
16. He, X.Y. and Yang, S.Y. (2006) Roles of type 10 17beta-hydroxysteroid dehydrogenase in intracrinology and metabolism of isoleucine and fatty acids. Endocr. Metab. Immune Disord. Drug Targets, 6, 95-102.
17. Garcia-Villoria, J., Navarro-Sastre, A., Fons, C., Perez-Cerda, C., Baldellou, A., Fuentes-Castello, M.A., Gonzalez, I., Hernandez-Gonzalez, A., Fernandez, C., Campistol, J. et al. (2009) Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. Clin. Biochem., 42, 27-33.
18. Fischer, F., Hamann, A. and Osiewacz, H.D. (2012) Mitochondrial quality control: an integrated network of pathways. Trends Biochem. Sci., 37, 284-292.
19. Lenski, C., Kooy, R.F., Reyniers, E., Loessner, D., Wanders, R.J., Winnepenninckx, B., Hellebrand, H., Engert, S., Schwartz, C.E., Meindl, A. et al. (2007) The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am. J. Hum. Genet., 80, 372-377.
20. Wu, L., Pan, L., Wei, Z. and Zhang, M. (2011) Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo. Science, 331, 757-760.
21. Jeyabalan, J., Nesbit, M.A., Galvanovskis, J., Callaghan, R., Rorsman, P. and Thakker, R.V. (2010) SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. PLoS One, 5, e10646.
22. Froese, D.S., Kochan, G., Muniz, J.R., Wu, X., Gileadi, C., Ugochukwu, E., Krysztofinska, E., Gravel, R.A., Oppermann, U. and Yue, W.W. (2010) Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. J. Biol. Chem., 285, 38204-38213.
23. Wu, H., Sun, H., Liang, X., Lima, W.F. and Crooke, S.T. (2013) Human RNase H1 is associated with protein P32 and is involved in mitochondrial pre-rRNA processing. PLoS One, 8, e71006.
24. Jourdain, A.A., Koppen, M., Wydro, M., Rodley, C.D., Lightowlers, R.N., Chrzanowska-Lightowlers, Z.M. and Martinou, J.C. (2013) GRSF1 regulates RNA processing in mitochondrial RNA granules. Cell Metab., 17, 399-410.
25. Antonicka, H., Sasarman, F., Nishimura, T., Paupe, V. and Shoubridge, E.A. (2013) The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression. Cell Metab., 17, 386-398.
26. Abramov, A.Y., Smulders-Srinivasan, T.K., Kirby, D.M., Acin-Perez, R., Enriquez, J.A., Lightowlers, R.N., Duchen, M.R. and Turnbull, D.M. (2010) Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain, 133, 797-807.
27. Suzuki, T. and Nagao, A. (2011) Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases. Annu. Rev. Genet., 45, 299-329.
28. Wang, S., Li, R., Fettermann, A., Li, Z., Qian, Y., Liu, Y., Wang, X., Zhou, A., Mo, J.Q., Yang, L. et al. (2011) Maternally inherited essential hypertension is associated with the novel 4263A.G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family. Circ. Res., 108, 862-870.
29. Gobert, A., Gutmann, B., Taschner, A., Gossringer, M., Holzmann, J., Hartmann, R.K., Rossmanith, W. and Giege, P. (2010)Asingle Arabidopsis organellar protein has RNasePactivity. Nat. Struct. Mol. Biol., 17, 740-744.
30. Haack, T.B., Kopajtich, R., Freisinger, P.,Wieland, T., Rorbach, J., Nicholls, T.J.,Baruffini,E.,Walther,A., Danhauser, K.,Zimmermann, F.A. et al. (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am. J.Hum. Genet., 93, 211-223.
31. Pfaffl, M.W., Tichopad, A., Prgomet, C. and Neuvians, T.P. (2004) Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper--Excel-based tool using pair-wise correlations. Biotechnol. Lett., 26, 509-515.
32. Untergasser, G., Steurer, M., Zimmermann, M., Hermann, M., Kern, J., Amberger, A., Gastl, G. and Gunsilius, E. (2008) The Dickkopf-homolog 3 is expressed in tumor endothelial cells and supports capillary formation. Int. J. Cancer, 122, 1539-1547.