Proteome profile in Myotonic Dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathways

Neurobiology of Disease

Volumn 38, Issue 2, 2010, Pages 273-280

  Rusconi, Francesco ^a   Mancinelli, Enzo ^a   Colombo, Graziano ^a   Cardani, Rosanna ^c   Da Riva, Luca ^b   Bongarzone, Italia ^b   Meola, Giovanni ^a,d   Zippel, Renata ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b NATIONAL CANCER INSTITUTE   (Italy)

^c CMN ONLUS Centro per lo Studio delle Malattie Neuromuscolari   (Italy)

^d IRCCS POLICLINICO SAN DONATO   (Italy)

Author keywords

Mitochondria; Myotonic Dystrophy; Myotubes; Protein disulfide isomerase; Protein folding; Proteomics; Satellite cells; Ubiquitin proteasome system; Ubiquitination

Indexed keywords

DIENOYL COENZYME A ISOMERASE; ELONGATION FACTOR TU; FATTY ACID; HEAT SHOCK PROTEIN 60; HEAT SHOCK PROTEIN 70; ISOMERASE; PROTEOME; UBIQUITIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; BICEPS BRACHII MUSCLE; CELL FRACTIONATION; CELL FUNCTION; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOSOL; DISORDERS OF MITOCHONDRIAL FUNCTIONS; HUMAN; HUMAN CELL CULTURE; HUMAN TISSUE; IMMUNOBLOTTING; MASS SPECTROMETRY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MUSCLE BIOPSY; MUSCLE CELL; MYOTONIC DYSTROPHY; MYOTONIC DYSTROPHY TYPE 2; MYOTUBE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN PROCESSING; TWO DIMENSIONAL GEL ELECTROPHORESIS;

BLOTTING, WESTERN; CELL FRACTIONATION; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; HUMANS; IN SITU HYBRIDIZATION; MASS SPECTROMETRY; MITOCHONDRIA; MUSCLE FIBERS, SKELETAL; MYOTONIC DYSTROPHY; PROTEOME;

EID: 77951207683     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2010.01.017     Document Type: Article

References (29)

1. Attaix D., Ventadour S., Codran A., Bechet D., Taillandier D., Combaret L. The ubiquitin-proteasome system and skeletal muscle wasting. Essays Biochem. 2005, 41:173-186.
2. Cardani R., Mancinelli E., Sansone V., Rotondo G., Meola G. Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy. Eur. J. Histochem. 2004, 48:437-442.
3. Cardani R., Baldassa S., Botta A., Rinaldi F., Novelli G., Mancinelli E., Meola G. Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. Neuromuscul. Disord. 2009, 19:335-343.
4. Charlet B.N., Savkur R.S., Singh G., Philips A.V., Grice E.A., Cooper T.A. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell 2002, 10:45-53.
5. Colombo G., Rusconi F., Rubino T., Cattaneo A., Martegani E., Parolaro D., Bachi A., Zippel R. Transcriptomic and proteomic analyses of mouse cerebellum reveals alterations in RasGRF1 expression following in vivo chronic treatment with delta 9-tetrahydrocannabinol. J. Mol. Neurosci. 2009, 37:111-122.
6. Coux O., Tanaka K., Goldberg A.L. Structure and functions of the 20S and 26S proteasomes. Annu. Rev. Biochem. 1996, 65:801-847.
7. Dantuma N.P., Heinen C., Hoogstraten D. The ubiquitin receptor Rad23: at the crossroads of nucleotide excision repair and proteasomal degradation. DNA Repair (Amst) 2009, 8:449-460.
8. Day J.W., Ranum L.P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul. Disord. 2005, 15:5-16.
9. Ellgaard L., Molinari M., Helenius A. Setting the standards: quality control in the secretory pathway. Science 1999, 286:1882-1888.
10. Fardaei M., Rogers M.T., Thorpe H.M., Larkin K., Hamshere M.G., Harper P.S., Brook J.D. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum. Mol. Genet. 2002, 11:805-814.
11. Gorla L., Cantu M., Micciche F., Patelli C., Mondellini P., Pierotti M.A., Bongarzone I. RET oncoproteins induce tyrosine phosphorylation changes of proteins involved in RNA metabolism. Cell. Signal. 2006, 18:2272-2282.
12. He H., Chen M., Scheffler N.K., Gibson B.W., Spremulli L.L., Gottlieb R.A. Phosphorylation of mitochondrial elongation factor Tu in ischemic myocardium: basis for chloramphenicol-mediated cardioprotection. Circ. Res. 2001, 89:461-467.
13. Ho T.H., Bundman D., Armstrong D.L., Cooper T.A. Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum. Mol. Genet. 2005, 14:1539-1547.
14. Horovitz-Fried M., Brutman-Barazani T., Kesten D., Sampson S.R. Insulin increases nuclear protein kinase Cdelta in L6 skeletal muscle cells. Endocrinology 2008, 149:1718-1727.
15. Huichalaf C., Schoser B., Schneider-Gold C., Jin B., Sarkar P., Timchenko L. Reduction of the rate of protein translation in patients with myotonic dystrophy 2. J. Neurosci. 2009, 29:9042-9049.
16. Liquori C.L., Ricker K., Moseley M.L., Jacobsen J.F., Kress W., Naylor S.L., Day J.W., Ranum L.P. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001, 293:864-867.
17. Mankodi A., Urbinati C.R., Yuan Q.P., Moxley R.T., Sansone V., Krym M., Henderson D., Schalling M., Swanson M.S., Thornton C.A. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum. Mol. Genet. 2001, 10:2165-2170.
18. Mankodi A., Takahashi M.P., Jiang H., Beck C.L., Bowers W.J., Moxley R.T., Cannon S.C., Thornton C.A. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 2002, 10:35-44.
19. Miller J.W., Urbinati C.R., Teng-Umnuay P., Stenberg M.G., Byrne B.J., Thornton C.A., Swanson M.S. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. Embo J. 2000, 19:4439-4448.
20. Moxley R.T., Meola G., Udd B., Ricker K. Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands. Neuromuscul. Disord. 2002, 12:306-317.
21. Murton A.J., Constantin D., Greenhaff P.L. The involvement of the ubiquitin proteasome system in human skeletal muscle remodelling and atrophy. Biochim. Biophys. Acta 2008, 1782:730-743.
22. Ranum L.P., Day J.W. Myotonic dystrophy: RNA pathogenesis comes into focus. Am. J. Hum. Genet. 2004, 74:793-804.
23. Rassow J., Dekker P.J., Van Wilpe S., Meijer M., Soll J. The preprotein translocase of the mitochondrial inner membrane: function and evolution. J. Mol. Biol. 1999, 286:105-120.
24. Salisbury E., Schoser B., Schneider-Gold C., Wang G.L., Huichalaf C., Jin B., Sirito M., Sarkar P., Krahe R., Timchenko N.A., Timchenko L.T. Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am. J. Pathol. 2009, 175:748-762.
25. Savkur R.S., Philips A.V., Cooper T.A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet. 2001, 29:40-47.
26. Savkur R.S., Philips A.V., Cooper T.A., Dalton J.C., Moseley M.L., Ranum L.P., Day J.W. Insulin receptor splicing alteration in myotonic dystrophy type 2. Am. J. Hum. Genet. 2004, 74:1309-1313.
27. Smeitink J.A., Elpeleg O., Antonicka H., Diepstra H., Saada A., Smits P., Sasarman F., Vriend G., Jacob-Hirsch J., Shaag A., Rechavi G., Welling B., Horst J., Rodenburg R.J., Van Den Heuvel B., Shoubridge E.A. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am. J. Hum. Genet. 2006, 79:869-877.
28. Valente L., Tiranti V., Marsano R.M., Malfatti E., Fernandez-Vizarra E., Donnini C., Mereghetti P., De Gioia L., Burlina A., Castellan C., Comi G.P., Savasta S., Ferrero I., Zeviani M. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am. J. Hum. Genet. 2007, 80:44-58.
29. Wei N., Deng X.W. The COP9 signalosome. Annu. Rev. Cell Dev. Biol. 2003, 19:261-286.