Muscle wasting in myotonic dystrophies: A model of premature aging

Frontiers in Aging Neuroscience

Volumn 7, Issue JUN, 2015, Pages

  Mateos Aierdi, Alba Judith ^a,b   Goicoechea, Maria ^a,b   Aiastui, Ana ^a,b   Torrón, Roberto Fernandez ^a,b,c   Garcia Puga, Mikel ^a   Matheu, Ander ^a   de Munain, Adolfo López ^a,b,c,d  

^a BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL DONOSTIA   (Spain)

^d UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

Aging; Muscle wasting; Myotonic dystrophy; Sarcopenia; Satellite cells

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ATROGIN 1; CHAPERONE; CHLORIDE CHANNEL; CYCLIN D1; GLYCOGEN SYNTHASE KINASE 3BETA; HEAT SHOCK PROTEIN; HISTONE; INSULIN RECEPTOR; KRUPPEL LIKE FACTOR 6; MESSENGER RNA; MUSCLE RING FINGER 1 PROTEIN; MYOSIN; MYOTONIC DYSTROPHY PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE R; PROTEIN MSH2; PROTEIN SERINE THREONINE KINASE; PROTEIN SIX5; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; TROPONIN; UBIDECARENONE; UBIQUITIN PROTEIN LIGASE NEDD4; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; AGING; AUTOPHAGY; CAG REPEAT; CATARACT; CELL AGING; CELL CYCLE ARREST; CELL PROLIFERATION; CENTRAL NERVOUS SYSTEM DISEASE; CHROMATIN STRUCTURE; CNBP GENE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DMPK GENE; DNA REPAIR; DNA REPLICATION; ENVIRONMENTAL FACTOR; EPIGENETICS; EXCISION REPAIR; GENE; HAPLOINSUFFICIENCY; HEART FAILURE; HUMAN; INTRON; LIVER DISEASE; MACULAR DEGENERATION; MISMATCH REPAIR; MUSCLE AGING; MUSCLE ATROPHY; MUSCLE REGENERATION; MUSCLE STRENGTH; MYOTONIC DYSTROPHY; NONHUMAN; NUCLEOSOME; OPHTHALMOPLEGIA; PHENOTYPE; PROTEIN DEGRADATION; PROTEIN HOMEOSTASIS; PROTEIN MOTIF; PROTEIN PHOSPHORYLATION; PROTEIN PROCESSING; PROTEIN SECONDARY STRUCTURE; PROTEIN SYNTHESIS; PTOSIS; REVIEW; SARCOPENIA; SATELLITE CELL; SKELETAL MUSCLE; SYSTEMIC DISEASE; TANDEM REPEAT; TELOMERE SHORTENING; UBIQUITINATION; ZNF9 GENE;

EID: 84936070185     PISSN: None     EISSN: 16634365     Source Type: Journal    
DOI: 10.3389/fnagi.2015.00125     Document Type: Review

References (191)

1. Achiron,A., Barak,Y., Magal,N., Shohat,M., Cohen,M., Barar,R., and Gadoth,N. (1998) Abnormal liver test results in myotonic dystrophy. J Clin Gastroenterol 26: 292-295.
2. Alwazzan,M., Newman,E., Hamshere,M.G., and Brook,J.D. (1999) Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Hum Mol Genet 8: 1491-1497. doi: 10.1093/hmg/8.8.1491
3. Andersson,V., Hanzen,S., Liu,B., Molin,M., and Nystrom,T. (2013) Enhancing protein disaggregation restores proteasome activity in aged cells. Aging (Albany NY) 5: 802-812.
4. Antonini,G., Giubilei,F., Mammarella,A., Amicucci,P., Fiorelli,M., Gragnani,F. et al. (2000) Natural history of cardiac involvement in myotonic dystrophy: correlation with CTG repeats. Neurology 55: 1207-1209.
5. Anvret,M., Ahlberg,G., Grandell,U., Hedberg,B., Johnson,K., and Edstrom,L. (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 2: 1397-1400. doi: 10.1093/hmg/2.9.1397
6. Arsenault,M.E., Prévost,C., Lescault,A., Laberge,C., Puymirat.J., Mathieu.J. (2006) Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology 66: 1248-50. doi: 10.1212/01.wnl.0000208513.48550.08
7. Bassez,G., Chapoy,E., Bastuji-Garin,S., Radvanyi-Hoffman,H., Authier,F.J., Pellissier,J.F. et al. (2008) Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy. J Neuropathol Exp Neurol 67: 319-325. doi: 10.1097/NEN.0b013e31816b4acc.
8. Beaulieu,D., Thebault,P., Pelletier,R., Chapdelaine,P., Tarnopolsky,M., Furling,D., and Puymirat,J. (2012) Abnormal prostaglandin E2 production blocks myogenic differentiation in myotonic dystrophy. Neurobiol Dis 45: 122-129. Doi:10.1016/j.nbd.2011.06.014
9. Beffy,P., Del,C.R., Masini,M., Furling,D., Puymirat,J., Masiello,P., and Simili,M. (2010) Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts. Int J Biochem Cell Biol 42: 1973-1983. doi: 10.1016/j.biocel.2010.08.010.
10. Bellini,M., Biagi,S., Stasi,C., Costa,F., Mumolo,M.G., Ricchiuti,A., and Marchi,S. (2006) Gastrointestinal manifestations in myotonic muscular dystrophy. World J Gastroenterol 12: 1821-1828. doi: 10.3748/wjg.v12.i12.1821
11. Bentzinger,C.F., Wang,Y.X., von,M.J., Soleimani,V.D., Yin,H., and Rudnicki,M.A. (2013) Fibronectin regulates Wnt7a signaling and satellite cell expansion. Cell Stem Cell 12: 75-87. doi: 10.1016/j.stem.2012.09.015
12. Bernet,J.D., Doles,J.D., Hall,J.K., Kelly,T.K., Carter,T.A., and Olwin,B.B. (2014) p38 MAPK signaling underlies a cell-autonomous loss of stem cell self-renewal in skeletal muscle of aged mice. Nat Med 20: 265-271. Doi:10.1038/nm.3465
13. Berul,C.I., Maguire,C.T., Aronovitz,M.J., Greenwood,J., Miller,C., Gehrmann,J. et al. (1999) DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 103: R1-R7. Doi:10.1172/JCI5346
14. Bhakta,D., Lowe,M.R., and Groh,W.J. (2004) Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J 147: 224-227. Doi:10.1016/j.ahj.2003.08.008
15. Bigot,A., Klein,A.F., Gasnier,E., Jacquemin,V., Ravassard,P., Butler-Browne,G. et al. (2009) Large CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells. Am J Pathol 174: 1435-1442. Doi:10.2353/ajpath.2009.080560
16. Blasco,M.A. (2007) Telomere length, stem cells and aging. Nat Chem Biol 3: 640-649. doi: 10.1038/nchembio.2007.38
17. Brack,A.S., and Rando,T.A. (2007) Intrinsic changes and extrinsic influences of myogenic stem cell function during aging. Stem Cell Rev 3: 226-237. doi: 10.1007/s12015-007-9000-2
18. Bratic,A., and Larsson,N.G. (2013) The role of mitochondria in aging. J Clin Invest 123: 951-957. doi: 10.1172/JCI64125.
19. Brook,J.D., McCurrach,M.E., Harley,H.G., Buckler,A.J., Church,D., Aburatani,H. et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 68: 799-808.doi:10.1016/0092-8674(92)90154-5
20. Brouwer,J.R., Huguet,A., Nicole,A., Munnich,A., and Gourdon,G. (2013) Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus. J Nucleic Acids 2013: 567435. Doi: 10.1155/2013/567435
21. Bujanda,L., Lopez de,M.A., Alcon,A., Gutierrez Stampa,M.A., Martinez Perez-Balsa,A., and Arenas,J.I. (1997) The gastrointestinal changes in dystrophia myotonica. Rev Esp Enferm Dig 89: 711-714.
22. Calderwood,S.K., Murshid,A., and Prince,T. (2009) The shock of aging: molecular chaperones and the heat shock response in longevity and aging--a mini-review. Gerontology 55: 550-558 doi: 10.1159/000225957.
23. Carlson,M.E., and Conboy,I.M. (2007) Loss of stem cell regenerative capacity within aged niches. Aging Cell 6: 371-382. Doi: 10.1111/j.1474-9726.2007.00286.x
24. Carlson,M.E., Conboy,M.J., Hsu,M., Barchas,L., Jeong,J., Agrawal,A. et al. (2009) Relative roles of TGF beta1 and Wnt in the systemic regulation and aging of satellite cell responses. Aging Cell 8: 676-689. Doi:10.1111/j.1474-9726.2009.00517.x
25. Chakkalakal,J.V., Jones,K.M., Basson,M.A., and Brack,A.S. (2012) The aged niche disrupts muscle stem cell quiescence. Nature 490: 355-360. doi: 10.1038/nature11438
26. Charge,S.B., and Rudnicki,M.A. (2004) Cellular and molecular regulation of muscle regeneration. Physiol Rev 84: 209-238. doi:10.1152/physrev.00019.2003
27. Chen,W., Wang,Y., Abe,Y., Cheney,L., Udd,B., and Li,Y.P. (2007) Haploinsuffciency for Znf9 in Znf9+/-mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol 368: 8-17. Doi: 10.1016/j.jmb.2007.01.088
28. Chiu,C.P., Dragowska,W., Kim,N.W., Vaziri,H., Yui,J., Thomas,T.E. et al. (1996) Differential expression of telomerase activity in hematopoietic progenitors from adult human bone marrow. Stem Cells 14: 239-248. doi: 10.1002/stem.140239
29. Chondrogianni,N., Petropoulos,I., Grimm,S., Georgila,K., Catalgol,B., Friguet,B. et al. (2014) Protein damage, repair and proteolysis. Mol Aspects Med 35: 1-71. doi: 10.1016/j.freeradbiomed.2014.03.031
30. Collins,C.A., Zammit,P.S., Ruiz,A.P., Morgan,J.E., and Partridge,T.A. (2007) A population of myogenic stem cells that survives skeletal muscle aging. Stem Cells 25: 885-894. doi:10.1634/stemcells.2006-0372
31. Conboy,I.M., Conboy,M.J., Wagers,A.J., Girma,E.R., Weissman,I.L., and Rando,T.A. (2005) Rejuvenation of aged progenitor cells by exposure to a young systemic environment. Nature 433: 760-764. doi: 10.1038/nature03260
32. Concannon,C., and Lahue,R.S. (2013) The 26S proteasome drives trinucleotide repeat expansions. Nucleic Acids Res 41: 6098-6108. doi: 10.1093/nar/gkt295
33. Concannon,C., and Lahue,R.S. (2014) Nucleotide excision repair and the 26S proteasome function together to promote trinucleotide repeat expansions. DNA Repair (Amst) 13: 42-49. doi: 10.1016/j.dnarep.2013.11.004.
34. Cosgrove,B.D., Gilbert,P.M., Porpiglia,E., Mourkioti,F., Lee,S.P., Corbel,S.Y. et al. (2014) Rejuvenation of the muscle stem cell population restores strength to injured aged muscles. Nat Med 20: 255-264. Doi: 10.1038/nm.3464
35. Cudia,P., Bernasconi,P., Chiodelli,R., Mangiola,F., Bellocci,F., Dello,R.A. et al. (2009) Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables. J Neurol Neurosurg Psychiatry 80: 790-793. doi: 10.1136/jnnp.2008.162594.
36. Day,J.W., Ricker,K., Jacobsen,J.F., Rasmussen,L.J., Dick,K.A., Kress,W. et al. (2003) Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60: 657-664.
37. Day,K., Shefer,G., Shearer,A., and Yablonka-Reuveni,Z. (2010) The depletion of skeletal muscle satellite cells with age is concomitant with reduced capacity of single progenitors to produce reserve progeny. Dev Biol 340: 330-343. doi: 10.1016/j.ydbio.2010.01.006.
38. De,A.L., Raisaro,A., Marchiano,V., Radice,S., and Meola,G. (1995) Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging. Eur Heart J 16: 1007-1010.
39. Debacker,K., Frizzell,A., Gleeson,O., Kirkham-McCarthy,L., Mertz,T., and Lahue,R.S. (2012) Histone deacetylase complexes promote trinucleotide repeat expansions. PLoS Biol 10: e1001257. Doi: 10.1371/journal.pbio.1001257
40. Denis,J.A., Gauthier,M., Rachdi,L., Aubert,S., Giraud-Triboult,K., Poydenot,P. et al. (2013) mTOR-dependent proliferation defect in human ES-derived neural stem cells affected by myotonic dystrophy type 1. J Cell Sci 126: 1763-1772. doi: 10.1242/jcs.116285.
41. Du,H., Cline,M.S., Osborne,R.J., Tuttle,D.L., Clark,T.A., Donohue,J.P. et al. (2010) Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nat Struct Mol Biol 17: 187-193. Doi: 10.1038/nsmb.1720
42. Du,J., Campau,E., Soragni,E., Jespersen,C., and Gottesfeld,J.M. (2013) Length-dependent CTG.CAG triplet repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells. Hum Mol Genet 22: 5276-5287. doi: 10.1093/hmg/ddt386
43. Ercolin,B., Sassi,F.C., Mangilli,L.D., Mendonca,L.I., Limongi,S.C., and de Andrade,C.R. (2013) Oral motor movements and swallowing in patients with myotonic dystrophy type 1. Dysphagia 28: 446-454. doi: 10.1007/s00455-013-9458-9.
44. Espejel,S., Martin,M., Klatt,P., Martin-Caballero,J., Flores,J.M., and Blasco,M.A. (2004) Shorter telomeres, accelerated ageing and increased lymphoma in DNA-PKcs-deficient mice. EMBO Rep 5: 503-509. doi:10.1038/sj.embor.7400127
45. Evans,W.J., and Campbell,W.W. (1993) Sarcopenia and age-related changes in body composition and functional capacity. J Nutr 123: 465-468. doi: 0022-3166/93
46. Ferrington,D.A., Husom,A.D., and Thompson,L.V. (2005) Altered proteasome structure, function, and oxidation in aged muscle. FASEB J 19: 644-646. doi: 10.1096/fj.04-2578fje
47. Ferron,S., Mira,H., Franco,S., Cano-Jaimez,M., Bellmunt,E., Ramirez,C. et al. (2004) Telomere shortening and chromosomal instability abrogates proliferation of adult but not embryonic neural stem cells. Development 131: 4059-4070. doi: 10.1242/dev.01215
48. Fielding,R.A., Vellas,B., Evans,W.J., Bhasin,S., Morley,J.E., Newman,A.B. et al. (2011) Sarcopenia: an undiagnosed condition in older adults. Current consensus definition: prevalence, etiology, and consequences. International working group on sarcopenia. J Am Med Dir Assoc 12: 249-256. doi: 10.1016/j.jamda.2011.01.003.
49. Filippova,G.N., Thienes,C.P., Penn,B.H., Cho,D.H., Hu,Y.J., Moore,J.M. et al. (2001) CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat Genet 28: 335-343. doi:10.1038/ng570
50. Flores,I., Cayuela,M.L., and Blasco,M.A. (2005) Effects of telomerase and telomere length on epidermal stem cell behavior. Science 309: 1253-1256. doi: 10.1126/science.1115025
51. Fraga,M.F., and Esteller,M. (2007) Epigenetics and aging: the targets and the marks. Trends Genet 23: 413-418. Doi: 10.1016/j.tig.2007.05.008
52. Frisch,R., Singleton,K.R., Moses,P.A., Gonzalez,I.L., Carango,P., Marks,H.G., and Funanage,V.L. (2001) Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Mol Genet Metab 74: 281-291. Doi: 10.1006/mgme.2001.3229
53. Fu,Y.H., Friedman,D.L., Richards,S., Pearlman,J.A., Gibbs,R.A., Pizzuti,A. et al. (1993) Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260: 235-238. Doi: 10.1126/science.8469976
54. Furling,D., Coiffier,L., Mouly,V., Barbet,J.P., St Guily,J.L., Taneja,K. et al. (2001) Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet 10: 2079-2087. doi: 10.1093/hmg/10.19.2079
55. Gadalla,S.M., Pfeiffer,R.M., Kristinsson,S.Y., Bjorkholm,M., Hilbert,J.E., Moxley,R.T., III et al. (2013) Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis. PLoS One 8: e79851. doi: 10.1371/journal.pone.0079851.
56. Ghorbani,M., Taylor,S.J., Pook,M.A., and Payne,A. (2013) Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases. J Nucleic Acids 2013: 689798. doi:10.1155/2013/689798
57. Giagnacovo,M., Malatesta,M., Cardani,R., Meola,G., and Pellicciari,C. (2012) Nuclear ribonucleoprotein containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2. Histochem Cell Biol 138: 699-707. doi: 10.1007/s00418-012-0984-6
58. Gomes-Pereira,M., Cooper,T.A., and Gourdon,G. (2011) Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med 17: 506-517 doi: 10.1016/j.molmed.2011.05.004
59. Gomes-Pereira,M., Hilley,J.D., Morales,F., Adam,B., James,H.E., and Monckton,D.G. (2014) Disease associated CAG.CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion. Nucleic Acids Res 42: 7047-7056. doi: 10.1093/nar/gku285
60. Gopinath,S.D., and Rando,T.A. (2008) Stem cell review series: aging of the skeletal muscle stem cell niche. Aging Cell 7: 590-598. doi: 10.1111/j.1474-9726.2008.00399.x
61. Gorbunova,V., Seluanov,A., Mao,Z., and Hine,C. (2007) Changes in DNA repair during aging. Nucleic Acids Res 35: 7466-7474. doi:10.1093/nar/gkm756
62. Groh,W.J., Groh,M.R., Saha,C., Kincaid,J.C., Simmons,Z., Ciafaloni,E. et al. (2008) Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 358: 2688-2697. doi: 10.1056/NEJMoa062800.
63. Han,S., and Brunet,A. (2012) Histone methylation makes its mark on longevity. Trends Cell Biol 22: 42-49. doi: 10.1016/j.tcb.2011.11.001
64. Harmon,E.B., Harmon,M.L, Larsen,T.D., Paulson,A.F., and Perryman,M.B. (2008) Myotonic Dystrophy Protein Kinase is expressed in embryonic myocytes and is required for myotube formation. Developmental Dynamics 237:2353-2366. Doi: 10.1002/dvdy.21653.
65. Harmon,E.B., Harmon,M.L, Larsen,T.D., Yang,J., Glasford,J.W. and Perryman,M.B. (2011) Myotonic Dystrophy Protein Kinase is critical for nuclear envelope integrity. J Biol Chem 286: 40296-40306. Doi: 10.1074/jbc.M111.241455.
66. Harper PS. (2001). Myotonic Dystrophy. 3rd edn. London: WB Saunders.
67. Harper,J.C., Wells,D., Piyamongkol,W., Abou-Sleiman,P., Apessos,A., Ioulianos,A. et al. (2002) Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat Diagn 22: 525-533. doi: 10.1002/pd.394
68. He,F., and Todd,P.K. (2011) Epigenetics in nucleotide repeat expansion disorders. Semin Neurol 31: 470-483. Doi: 10.1055/s-0031-1299786
69. Hermans,M.C., Faber,C.G., Vanhoutte,E.K., Bakkers,M., De Baets,M.H., de Die-Smulders,C.E., and Merkies,I.S. (2011) Peripheral neuropathy in myotonic dystrophy type 1. J Peripher Nerv Syst 16: 24-29. doi: 10.1111/j.1529-8027.2011.00313.x.
70. Houtkooper,R.H., Pirinen,E., and Auwerx,J. (2012) Sirtuins as regulators of metabolism and healthspan. Nat Rev Mol Cell Biol 13: 225-238. doi: 10.1038/nrm3293
71. Huguet,A., Medja,F., Nicole,A., Vignaud,A., Guiraud-Dogan,C., Ferry,A. et al. (2012) Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus. PLoS Genet 8: e1003043. Doi: 10.1371/journal.pgen.1003043
72. Huichalaf,C., Sakai,K., Jin,B., Jones,K., Wang,G.L., Schoser,B. et al. (2010) Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. FASEB J 24: 3706-3719 doi: 10.1096/fj.09-151159.
73. Husom,A.D., Peters,E.A., Kolling,E.A., Fugere,N.A., Thompson,L.V., and Ferrington,D.A. (2004) Altered proteasome function and subunit composition in aged muscle. Arch Biochem Biophys 421: 67-76. doi: 10.1016/j.abb.2003.10.010
74. Imai,S., and Guarente,L. (2014) NAD+ and sirtuins in aging and disease. Trends Cell Biol 24: 464-471. doi: 10.1016/j.tcb.2014.04.002
75. Jansen,G., Groenen,P.J., Bachner,D., Jap,P.H., Coerwinkel,M., Oerlemans,F. et al. (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 13: 316-324. doi:10.1038/ng0796-316
76. Jones,K., Wei,C., Iakova,P., Bugiardini,E., Schneider-Gold,C., Meola,G. et al. (2012) GSK3beta mediates muscle pathology in myotonic dystrophy. J Clin Invest 122: 4461-4472. doi: 10.1172/JCI64081.
77. Kaeberlein,M. (2008) The ongoing saga of sirtuins and aging. Cell Metab 8: 4-5. doi: 10.1016/j.cmet.2008.06.004
78. Kaliman,P., Catalucci,D., Lam,J.T., Kondo,R., Paz Gutiérrez,J.C., Reddy,S., Palacín,M., Zorzano,A., Chien,K.R. and Ruiz-Lozano,P. (2005) Myotonic Dystrophy Protein Kinase phosphorylates phospholamban and regulates calcium uptake in cardyomyocyte sarcoplasmic reticulum. J Biol Chem 280: 8016-8021 doi:10.1074/jbc.M412845200.
79. Kaminsky,P., and Pruna,L. (2012) [A genetic systemic disease: clinical description of type 1 myotonic dystrophy in adults]. Rev Med Interne 33: 514-518. doi: 10.1016/j.revmed.2012.03.355.
80. Kimizuka,Y., Kiyosawa,M., Tamai,M., and Takase,S. (1993) Retinal changes in myotonic dystrophy. Clinical and follow-up evaluation. Retina 13: 129-135.
81. Klesert,T.R., Cho,D.H., Clark,J.I., Maylie,J., Adelman,J., Snider,L. et al. (2000) Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet 25: 105-109. doi:10.1038/75490
82. Klesert,T.R., Otten,A.D., Bird,T.D., and Tapscott,S.J. (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet 16: 402-406. doi:10.1038/ng0897-402
83. Kovtun,I.V., Spiro,C., and McMurray,C.T. (2004) Triplet repeats and DNA repair: germ cell and somatic cell instability in transgenic mice. Methods Mol Biol 277: 309-319. doi 10.1385/1-59259-804-8:309
84. Krishnan,R., and Lochhead,J. (2010) Spontaneous bilateral lamellar macular holes and foveal schisis associated with myotonic dystrophy type 1. Clin Experiment Ophthalmol 38: 82-84. doi: 10.1111/j.1442-9071.2010.02195.x
85. Lepper,C., Partridge,T.A., and Fan,C.M. (2011) An absolute requirement for Pax7-positive satellite cells in acute injury-induced skeletal muscle regeneration. Development 138: 3639-3646. Doi: 10.1242/dev.067595
86. Liquori,C.L., Ricker,K., Moseley,M.L., Jacobsen,J.F., Kress,W., Naylor,S.L. et al. (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293: 864-867. Doi: 10.1126/science.1062125
87. Liu,G., Chen,X., Gao,Y., Lewis,T., Barthelemy,J., and Leffak,M. (2012) Altered replication in human cells promotes DMPK (CTG)(n). (CAG)(n) repeat instability. Mol Cell Biol 32: 1618-1632. Doi: 10.1128/MCB.06727-11
88. Liu,L., Cheung,T.H., Charville,G.W., Hurgo,B.M., Leavitt,T., Shih,J. et al. (2013) Chromatin modifications as determinants of muscle stem cell quiescence and chronological aging. Cell Rep 4: 189-204. Doi: 10.1016/j.celrep.2013.05.043
89. Liu,L., and Rando,T.A. (2011) Manifestations and mechanisms of stem cell aging. J Cell Biol 193: 257-266. Doi: 10.1083/jcb.201010131
90. Locke,M., Noble,E.G., and Atkinson,B.G. (1991) Inducible isoform of HSP70 is constitutively expressed in a muscle fiber type specific pattern. Am J Physiol 261: C774-C779.
91. Lopez de Munain .A., Blanco,A., Emparanza,J.I., Marti Masso,J.F., Cobo,A., Basauri,B. et al. (1994) Anticipation in myotonic dystrophy: a parental-sex-related phenomenon. Neuroepidemiology 13: 75-78.
92. Lopez de Munain .A., Blanco,A., Emparanza,J.I., Poza,J.J., Marti Masso,J.F., Cobo,A. et al. (1993) Prevalence of myotonic dystrophy in Guipuzcoa (Basque Country, Spain). Neurology 43: 1573-1576.
93. Lopez,C.A., Nakamori,M., Tome,S., Chitayat,D., Gourdon,G., Thornton,C.A., and Pearson,C.E. (2011) Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Hum Mol Genet 20: 1-15. Doi: 10.1093/hmg/ddq427.
94. Lopez-Otin,C., Blasco,M.A., Partridge,L., Serrano,M., and Kroemer,G. (2013) The hallmarks of aging. Cell 153: 1194-1217. Doi: 10.1016/j.cell.2013.05.039
95. Malatesta,M. (2012) Skeletal muscle features in myotonic dystrophy and sarcopenia: do similar nuclear mechanisms lead to skeletal muscle wasting? Eur J Histochem 56: e36. doi: 10.4081/ejh.2012.e36.
96. Malatesta,M., Cardani,R., Pellicciari,C., and Meola,G. (2014) RNA Transcription and Maturation in Skeletal Muscle Cells are Similarly Impaired in Myotonic Dystrophy and Sarcopenia: The Ultrastructural Evidence. Front Aging Neurosci 6: 196doi: 10.3389/fnagi.2014.00196.
97. Malatesta,M., Giagnacovo,M., Cardani,R., Meola,G., and Pellicciari,C. (2011a) RNA processing is altered in skeletal muscle nuclei of patients affected by myotonic dystrophy. Histochem Cell Biol 135: 419-425. doi: 10.1007/s00418-011-0797-z
98. Malatesta,M., Giagnacovo,M., Renna,L.V., Cardani,R., Meola,G., and Pellicciari,C. (2011b) Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence. Eur J Histochem 55: e26. Doi: 10.4081/ejh.2011.e26
99. Malatesta,M., and Meola,G. (2010) Structural and functional alterations of the cell nucleus in skeletal muscle wasting: the evidence in situ. Eur J Histochem 54: e44. Doi: 10.4081/ejh.2010.e44
100. Mammarella,A., Paradiso,M., Antonini,G., Paoletti,V., De,M.A., Basili,S. et al. (2000) Natural history of cardiac involvement in myotonic dystrophy (Steinert's disease): a 13-year follow-up study. Adv Ther 17: 238-251.
101. Mankodi,A., Logigian,E., Callahan,L., McClain,C., White,R., Henderson,D. et al. (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289: 1769-1773. doi: 10.1126/science/289.5485.1769
102. Margarit,E., Armas,P., García Siburu,N. and Calcaterra,NB. (2014) CNBP modulates the transcription of Wnt signaling pathway components. Biochim Biophys Acta 1839:1151-60 doi: 10.1016/j.bbagrm.2014.08.009
103. Margolis,J.M., Schoser,B.G., Moseley,M.L., Day,J.W., and Ranum,L.P. (2006) DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum Mol Genet 15: 1808-1815. doi: 10.1093/hmg/ddl103
104. Martorell,L., Monckton,D.G., Gamez,J., Johnson,K.J., Gich,I., Lopez de,M.A., and Baiget,M. (1998) Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet 7: 307-312. doi: 10.1093/hmg/7.2.307
105. Mathieu,J., and Prevost,C. (2012) Epidemiological surveillance of myotonic dystrophy type 1: a 25-year population-based study. Neuromuscul Disord 22: 974-979. doi: 10.1016/j.nmd.2012.05.017.
106. Mauro,A. (1961) Satellite cell of skeletal muscle fibers. J Biophys Biochem Cytol 9: 493-495.
107. McMurray,C.T. (2008) Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease. DNA Repair (Amst) 7: 1121-1134. Doi:1038/nrg2828
108. Michalowski,S., Miller,J.W., Urbinati,C.R., Paliouras,M., Swanson,M.S., and Griffith,J. (1999) Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res 27: 3534-3542.
109. Miller,J.W., Urbinati,C.R., Teng-Umnuay,P., Stenberg,M.G., Byrne,B.J., Thornton,C.A., and Swanson,M.S. (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19: 4439-4448. doi: 10.1093/emboj/19.17.4439
110. Modoni,A., Silvestri,G., Vita,M.G., Quaranta,D., Tonali,P.A., and Marra,C. (2008) Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study. J Neurol 255: 1737-1742. doi: 10.1007/s00415-008-0017-5.
111. Monckton,D.G., Wong,L.J., Ashizawa,T., and Caskey,C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 4: 1-8.
112. Morales,F., Couto,J.M., Higham,C.F., Hogg,G., Cuenca,P., Braida,C. et al. (2012) Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Hum Mol Genet 21: 3558-3567. doi:10.1093/hmg/dds185
113. Morrison,S.J., Prowse,K.R., Ho,P., and Weissman,I.L. (1996) Telomerase activity in hematopoietic cells is associated with self-renewal potential. Immunity 5: 207-216. Doi: 10.1016/S1074-7613(00)80316-7
114. Morrone,A., Pegoraro,E., Angelini,C., Zammarchi,E., Marconi,G., and Hoffman,E.P. (1997) RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J Clin Invest 99: 1691-1698. Doi: 10.1172/JCI119332
115. Moskalev,A.A., Shaposhnikov,M.V., Plyusnina,E.N., Zhavoronkov,A., Budovsky,A., Yanai,H., and Fraifeld,V.E. (2013) The role of DNA damage and repair in aging through the prism of Koch-like criteria. Ageing Res Rev 12: 661-684. doi: 10.1016/j.arr.2012.02.001
116. Mounsey,J.P., John,j.E., Helmke,S.M., Bush,E.W., Gilbert,J., Roses,A.D., Perriman,M.B., Jones,L.R. and Moorman,J.R. (2000) Phospholemman is a substrate fro Myotonic Dystrophy Protein Kinase. J Biol Chem 275:23362-23367 Doi: 10.1074/jbc.M000899200
117. Murányi,A., Zhang,R., Liu,F., Hirano,K., Ito,M., Epstein,H.F. and Hartshorne,D.J. (2001) Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity. FEBS Letters 493:80-84 Doi: http://dx.doi.org/10.1016/S0014-5793(01)02283-9
118. Murphy,M.M., Lawson,J.A., Mathew,S.J., Hutcheson,D.A., and Kardon,G. (2011) Satellite cells, connective tissue fibroblasts and their interactions are crucial for muscle regeneration. Development 138: 3625-3637. doi: 10.1242/dev.064162
119. Naito,A.T., Sumida,T., Nomura,S., Liu,M.L., Higo,T., Nakagawa,A. et al. (2012) Complement C1q activates canonical Wnt signaling and promotes aging-related phenotypes. Cell 149: 1298-1313. Doi: 10.1016/j.cell.2012.03.047
120. O'Connor,M.S., Carlson,M.E., and Conboy,I.M. (2009) Differentiation rather than aging of muscle stem cells abolishes their telomerase activity. Biotechnol Prog 25: 1130-1137. doi: 10.1002/btpr.223.
121. Orngreen,M.C., Arlien-Soborg,P., Duno,M., Hertz,J.M., and Vissing,J. (2012) Endocrine function in 97 patients with myotonic dystrophy type 1. J Neurol 259: 912-920. doi: 10.1007/s00415-011-6277-5.
122. Osborne,R.J., Lin,X., Welle,S., Sobczak,K., O'Rourke,J.R., Swanson,M.S., and Thornton,C.A. (2009) Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Hum Mol Genet 18: 1471-1481. doi: 10.1093/hmg/ddp058
123. Oude Ophuis,R.J., Wijers,M., Bennink,M.B., van de Loo,F.A., Fransen,J.A., Wieringa,B., and Wansink,D.G. (2009) A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis. PLoS One 4: e8024. doi: 10.1371/journal.pone.0008024.
124. Pan,H., Li,Y.Y., Li,T.C., Tsai,W.T., Li,S.Y., and Hsiao,K.M. (2002) Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. Hum Reprod 17: 1578-1583. doi: 10.1093/humrep/17.6.1578
125. Pantic,B., Trevisan,E., Citta,A., Rigobello,M.P., Marin,O., Bernardi,P. et al. (2013) Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface. Cell Death Dis 4: e858. doi: 10.1038/cddis.2013.385.
126. Pelargonio,G., Dello,R.A., Sanna,T., De,M.G., and Bellocci,F. (2002) Myotonic dystrophy and the heart. Heart 88: 665-670.
127. Pelletier,R., Hamel,F., Beaulieu,D., Patry,L., Haineault,C., Tarnopolsky,M. et al. (2009) Absence of a differentiation defect in muscle satellite cells from DM2 patients. Neurobiol Dis 36: 181-190. Doi: 10.1016/j.nbd.2009.07.009
128. Petri,H., Vissing,J., Witting,N., Bundgaard,H., and Kober,L. (2012) Cardiac manifestations of myotonic dystrophy type 1. Int J Cardiol 160: 82-88. doi: 10.1016/j.ijcard.2011.08.037.
129. Pisani,V., Panico,M.B., Terracciano,C., Bonifazi,E., Meola,G., Novelli,G. et al. (2008) Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve 38: 1405-1411. doi: 10.1002/mus.21122.
130. Powers,E.T., Morimoto,R.I., Dillin,A., Kelly,J.W., and Balch,W.E. (2009) Biological and chemical approaches to diseases of proteostasis deficiency. Annu Rev Biochem 78: 959-991. doi: 10.1146/annurev.biochem.052308.114844
131. Prabhu,S., Raman,B., Ramakrishna,T., and Rao,C. (2012) HspB2/myotonic dystrophy protein kinase binding protein (MKBP) as a novel molecular chaperone: structural and functional aspects. PLoS One 7: e29810 doi: 10.1371/journal.pone.0029810.
132. Raheem,O., Olufemi,S.E., Bachinski,L.L., Vihola,A., Sirito,M., Holmlund-Hampf, J. et al. (2010) Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol 177: 3025-3036. Doi: 10.2353/ajpath.2010.100179
133. Reddy,S., Smith,D.B., Rich,M.M., Leferovich,J.M., Reilly,P., Davis,B.M. et al. (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 13: 325-335. doi: 10.1038/ng0796-325
134. Refsland,E.W., and Livingston,D.M. (2005) Interactions among DNA ligase I, the flap endonuclease and proliferating cell nuclear antigen in the expansion and contraction of CAG repeat tracts in yeast. Genetics 171: 923-934.doi: 10.1534/genetics.105.043448
135. Renna,L.V., Cardani,R., Botta,A., Rossi,G., Fossati,B., Costa,E., and Meola,G. (2014) Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction. Eur J Histochem 58: 2444. doi: 10.4081/ejh.2014.2444
136. Ricker,K., Koch,M.C., Lehmann-Horn,F., Pongratz,D., Otto,M., Heine,R., and Moxley,R.T., III (1994) Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44: 1448-1452.
137. Romeo,V., Pegoraro,E., Ferrati,C., Squarzanti,F., Soraru,G., Palmieri,A. et al. (2010) Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2. J Neurol 257: 1246-1255. doi: 10.1007/s00415-010-5498-3.
138. Rusconi,F., Mancinelli,E., Colombo,G., Cardani,R., Da,R.L., Bongarzone,I. et al. (2010) Proteome profile in Myotonic Dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathways. Neurobiol Dis 38: 273-280 doi: 10.1016/j.nbd.2010.01.017
139. Salisbury,E., Sakai,K., Schoser,B., Huichalaf,C., Schneider-Gold,C., Nguyen,H., et al., (2008) Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG1149 binding protein, CUGBP1. Exp Cell Res 314: 2266-78 doi: 10.1016/j.yexcr.2008.04.018
140. Salisbury,E., Schoser,B., Schneider-Gold,C., Wang,G.L., Huichalaf,C., Jin,B. et al. (2009) Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol 175: 748-762. doi: 10.2353/ajpath.2009.090047
141. Sambasivan,R., Yao,R., Kissenpfennig,A., Van,W.L., Paldi,A., Gayraud-Morel,B. et al. (2011) Pax7-expressing satellite cells are indispensable for adult skeletal muscle regeneration. Development 138: 3647-3656. doi: 10.1242/dev.067587
142. Santoro,M., Masciullo,M., Bonvissuto,D., Bianchi,M.L., Michetti,F., and Silvestri,G. (2013) Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2. Mol Cell Biochem 380: 259-265. doi: 10.1007/s11010-013-1681-z.
143. Sanz,A., and Stefanatos,R.K. (2008) The mitochondrial free radical theory of aging: a critical view. Curr Aging Sci 1: 10-21. doi: 10.2174/1874609810801010010
144. Sarkar,P.S., Appukuttan,B., Han,J., Ito,Y., Ai,C., Tsai,W. et al. (2000) Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet 25: 110-114. doi:10.1038/75500
145. Sarkar,P.S., Paul,S., Han,J., and Reddy,S. (2004) Six5 is required for spermatogenic cell survival and spermiogenesis. Hum Mol Genet 13: 1421-1431. doi: 10.1093/hmg/ddh161
146. Savkur,R.S., Philips,A.V., and Cooper,T.A. (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29: 40-47. doi:10.1038/ng704
147. Savkur,R.S., Philips,A.V., Cooper,T.A., Dalton,J.C., Moseley,M.L., Ranum,L.P., and Day,J.W. (2004) Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet 74: 1309-1313. doi: 10.1086/421528
148. Savouret,C., Brisson,E., Essers,J., Kanaar,R., Pastink,A., te,R.H. et al. (2003) CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J 22: 2264-2273. Doi: 10.1093/emboj/cdg202
149. Schoser,B.G., Schneider-Gold,C., Kress,W., Goebel,H.H., Reilich,P., Koch,M.C. et al. (2004) Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve 29: 275-281. doi: 10.1002/mus.10545
150. Screen,M., Jonson,P.H., Raheem,O., Palmio,J., Laaksonen,R., Lehtimaki,T. et al. (2014) Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions. Am J Pathol 184: 2322-2332. doi: 10.1016/j.ajpath.2014.04.013
151. Seriola,A., Spits,C., Simard,J.P., Hilven,P., Haentjens,P., Pearson,C.E., and Sermon,K. (2011) Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Hum Mol Genet 20: 176-185. doi: 10.1093/hmg/ddq456
152. Seznec,H., Agbulut,O., Sergeant,N., Savouret,C., Ghestem,A., Tabti,N. et al. (2001) Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet 10: 2717-2726. doi: 10.1093/hmg/10.23.2717
153. Shefer,G., Van de Mark,D.P., Richardson,J.B., and Yablonka-Reuveni,Z. (2006) Satellite-cell pool size does matter: defining the myogenic potency of aging skeletal muscle. Dev Biol 294: 50-66. doi: 10.1016/j.ydbio.2006.02.022
154. Siciliano,G., Mancuso,M., Tedeschi,D., Manca,M.L., Renna,M.R., Lombardi,V. et al. (2001) Coenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonic dystrophy. Brain Res Bull 56: 405-410. doi:10.1016/S0361-9230(01)00653-0
155. Sistiaga,A., Urreta,I., Jodar,M., Cobo,A.M., Emparanza,J., Otaegui,D. et al. (2010) Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. Psychol Med 40: 487-495. doi: 10.1017/S0033291709990602.
156. Soskic,V., Groebe,K., and Schrattenholz,A. (2008) Nonenzymatic posttranslational protein modifications in ageing. Exp Gerontol 43: 247-257. doi:10.1016/j.exger.2007.12.001
157. Sousa-Victor,P., Gutarra,S., Garcia-Prat,L., Rodriguez-Ubreva,J., Ortet,L., Ruiz-Bonilla,V. et al. (2014) Geriatric muscle stem cells switch reversible quiescence into senescence. Nature 506: 316-321. doi: 10.1038/nature13013
158. Subramanian,J., Vijayakumar,S., Tomkinson,A.E., and Arnheim,N. (2005) Genetic instability induced by overexpression of DNA ligase I in budding yeast. Genetics 171: 427-441. doi: 10.1534/genetics.105.042861
159. Sugiyama,Y., Suzuki,A., Kishikawa,M., Akutsu,R., Hirose,T., Waye,M.M. et al. (2000) Muscle develops a specific form of small heat shock protein complex composed of MKBP/HSPB2 and HSPB3 during myogenic differentiation. J Biol Chem 275: 1095-1104. doi: 10.1074/jbc.275.2.1095
160. Suzuki,A., Sugiyama,Y., Hayashi,Y., Nyu-i N, Yoshida,M., Nonaka,I. et al. (1998) MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. J Cell Biol 140: 1113-1124.
161. Tang,B., Cai,J., Sun,L., Li,Y., Qu,J., Snider,B.J., and Wu,S. (2014) Proteasome inhibitors activate autophagy involving inhibition of PI3K-Akt-mTOR pathway as an anti-oxidation defense in human RPE cells. PLoS One 9: e103364. doi: 10.15252/embj.201488278.
162. Tebbs,R.S., Flannery,M.L., Meneses,J.J., Hartmann,A., Tucker,J.D., Thompson,L.H. et al. (1999) Requirement for the Xrcc1 DNA base excision repair gene during early mouse development. Dev Biol 208: 513-529. doi: 10.1006/dbio.1999.9232
163. Tedeschi,D., Lombardi,V., Mancuso,M., Martelli,F., Sighieri,C., Rocchi,A. et al. (2000) Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics. Neurol Sci 21: S979-S980. doi: 10.1074/jbc.275.2.1095
164. Thornell,L.E., Lindstom,M., Renault,V., Klein,A., Mouly,V., Ansved,T. et al. (2009) Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1. Neuropathol Appl Neurobiol 35: 603-613. DOI: 10.1111/j.1365-2990.2009.01014.x
165. Thornton,C.A., Johnson,K., and Moxley,R.T., III (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 35: 104-107.
166. Thornton,C.A., Wymer,J.P., Simmons,Z., McClain,C., and Moxley,R.T., III (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 16: 407-409. doi: 10.1038/ng0897-407
167. Tian,B., White,R.J., Xia,T., Welle,S., Turner,D.H., Mathews,M.B., and Thornton,C.A. (2000) Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA 6: 79-87.
168. Timchenko,N.A., Iakova,P., Cai,Z.J., Smith,J.R., and Timchenko,L.T. (2001) Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol 21: 6927-6938. doi: 10.1074/jbc.M005960200
169. Tokgozoglu,L.S., Ashizawa,T., Pacifico,A., Armstrong,R.M., Epstein,H.F., and Zoghbi,W.A. (1995) Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion. JAMA 274: 813-819. doi:10.1001/jama.1995.03530100053034.
170. Tomaru,U., Takahashi,S., Ishizu,A., Miyatake,Y., Gohda,A., Suzuki,S. et al. (2012) Decreased proteasomal activity causes age-related phenotypes and promotes the development of metabolic abnormalities. Am J Pathol 180: 963-972. doi: http://dx.doi.org/10.1016/j.ajpath.2011.11.012
171. Udd,B., and Krahe,R. (2012) The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 11: 891-905. doi: 10.1016/S1474-4422(12)70204-1.
172. Ueda,H., Shimokawa,M., Yamamoto,M., Kameda,N., Mizusawa,H., Baba,T. et al. (1999) Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy. J Neurol Sci 162: 38-50. doi: 10.1016/S0022-510X(98)00290-1
173. Urciuolo,A., Quarta,M., Morbidoni,V., Gattazzo,F., Molon,S., Grumati,P. et al. (2013) Collagen VI regulates satellite cell self-renewal and muscle regeneration. Nat Commun 4: 1964. doi: 10.1038/ncomms2964
174. Vahidi,F.L., Rocheteau,P., Chayot,R., Montagne,B., Chaker,Z., Flamant,P. et al. (2014) More efficient repair of DNA double-strand breaks in skeletal muscle stem cells compared to their committed progeny. Stem Cell Res 13: 492-507. doi:10.1016/j.scr.2014.08.005
175. Valente,L., Tiranti,V., Marsano,R.M., Malfatti,E., Fernandez-Vizarra,E., Donnini,C. et al. (2007) Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 80: 44-58. doi: 10.1086/510559
176. van den Broek,W.J., Nelen,M.R., Wansink,D.G., Coerwinkel,M.M., te,R.H., Groenen,P.J., and Wieringa,B. (2002) Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet 11: 191-198. doi: 10.1093/hmg/11.2.191
177. van Herpen,R.E., Oude Ophuis,R.J., Wijers,M., Bennink,M.B., van de Loo,F.A., Fransen,J. et al. (2005) Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors. Mol Cell Biol 25: 1402-1414. doi: 10.1128/MCB.25.4.1402-1414.2005
178. Vattemi,G., Tomelleri,G., Filosto,M., Savio,C., Rizzuto,N., and Tonin,P. (2005) Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy. Neuropathol Appl Neurobiol 31: 45-52. DOI: 10.1111/j.1365-2990.2004.00602.x
179. Vaziri,H., Dragowska,W., Allsopp,R.C., Thomas,T.E., Harley,C.B., and Lansdorp,P.M. (1994) Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age. Proc Natl Acad Sci U S A 91: 9857-9860.
180. Verpoest,W., De,R.M., Sermon,K., De,R.M., Seneca,S., Papanikolaou,E. et al. (2008) Real and expected delivery rates of patients with myotonic dystrophy undergoing intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod 23: 1654-1660. doi: 10.1093/humrep/den105
181. Verpoest,W., Seneca,S., De,R.M., Sermon,K., De,R.M., De,V.M. et al. (2010) The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract. J Assist Reprod Genet 27: 327-333. doi: 10.1093/humrep/den105
182. Vignaud,A., Ferry,A., Huguet,A., Baraibar,M., Trollet,C., Hyzewicz,J. et al. (2010) Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway. Neuromuscul Disord 20: 319-325. doi: 10.1016/j.nmd.2010.03.006
183. Vihola,A., Bachinski,L.L., Sirito,M., Olufemi,S.E., Hajibashi,S., Baggerly,K.A. et al. (2010) Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. Acta Neuropathol 119: 465-479. doi: 10.1007/s00401-010-0637-6.
184. Vihola,A., Bassez,G., Meola,G., Zhang,S., Haapasalo,H., Paetau,A. et al. (2003) Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 60: 1854-1857.Doi: 10.1212/01.WNL.0000065898.61358.09
185. Vilchez,D., Simic,M.S., and Dillin,A. (2014) Proteostasis and aging of stem cells. Trends Cell Biol 24: 161-170. doi:10.1038/ncomms6659
186. Volle,C.B., and Delaney,S. (2012) CAG/CTG repeats alter the affinity for the histone core and the positioning of DNA in the nucleosome. Biochemistry 51: 9814-9825. doi: 10.1021/bi301416v
187. Wakimoto,H., Maguire,C.T., Sherwood,M.C., Vargas,M.M., Sarkar,P.S., Han,J. et al. (2002) Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. J Interv Card Electrophysiol 7: 127-135.
188. Wang,Y.H., Amirhaeri,S., Kang,S., Wells,R.D., and Griffith,J.D. (1994) Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 265: 669-671. doi:10.1126/science.8036515
189. Westerlaken,J.H., Van der Zee,C.E., Peters,W., and Wieringa,B. (2003) The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas. Brain Res 971: 116-127. doi: 10.1016/S0006-8993(03)02430-2
190. Xanthoudakis,S., Smeyne,R.J., Wallace,J.D., and Curran,T. (1996) The redox/DNA repair protein, Ref-1, is essential for early embryonic development in mice. Proc Natl Acad Sci U S A 93: 8919-8923.
191. Yin,H., Price,F., and Rudnicki,M.A. (2013) Satellite cells and the muscle stem cell niche. Physiol Rev 93: 23-67. doi: 10.1152/physrev.00043.2011