GSK3β mediates muscle pathology in myotonic dystrophy

Journal of Clinical Investigation

Volumn 122, Issue 12, 2012, Pages 4461-4472

  Jones, Karlie ^a   Wei, Christina ^a   Iakova, Polina ^a   Bugiardini, Enrico ^b   Schneider Gold, Christiane ^c   Meola, Giovanni ^b   Woodgett, James ^d   Killian, James ^a   Timchenko, Nikolai A ^a   Timchenko, Lubov T ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MILAN   (Italy)

^c ST JOSEF HOSPITAL   (Germany)

^d MOUNT SINAI HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

1,2,4 THIADIAZOLE DERIVATIVE; 1,2,4 THIADIAZOLIDINE 3,5 DIONE; ACTIN; CYCLIN D3; CYCLIN DEPENDENT KINASE 4; GLYCOGEN SYNTHASE KINASE 3BETA; LITHIUM CARBONATE; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ADULT; ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL CULTURE; CLINICAL ARTICLE; ENZYME ACTIVITY; FEMALE; HUMAN; HUMAN TISSUE; MALE; MUSCLE FUNCTION; MUSCLE WEAKNESS; MYOTONIA; MYOTONIC DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; TANDEM REPEAT;

ADULT; ANIMALS; CHO CELLS; CRICETINAE; CYCLIN D3; ENZYME STABILITY; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GLYCOGEN SYNTHASE KINASE 3; HUMANS; LITHIUM; MALE; MICE; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MUSCLE STRENGTH; MUSCLE, SKELETAL; MYOTONIC DYSTROPHY; PHOSPHORYLATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; THIADIAZOLES;

EID: 84870480784     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI64081     Document Type: Article

References (43)

1. Harper PS. Myotonic Dystrophy. London, United Kingdom: WB Saunders; 2001.
2. Brook JD, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeats at the 3′ end of a transcript encoding a protein kinase family member. Cell. 1992;68(4):799-808.
3. Fu YH, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992;255(5049):1256-1258.
4. Reardon W, Newcombe R, Fenton I, Sibert J, Harper PS. The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child. 1993;68(2):177-181. (Pubitemid 23066997)
5. Amack JD, Mahadevan MS. Myogenic defects in myotonic dystrophy. Dev Biol. 2004;265(2):294-301. (Pubitemid 38077258)
6. Wang J, et al. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet. 1995;4(4):599-606.
7. Timchenko LT, Timchenko NA, Caskey CT, Roberts R. Novel proteins with binding specificity to DNA CTG and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet. 1996;5(1):115-121. (Pubitemid 26018282)
8. Timchenko LT, et al. Identification of a (CUG)n triplet repeat binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 1996;24(22):4407-4414. (Pubitemid 26388627)
9. Philips AV, Timchenko LT, Cooper TA. Disruption of splicing of regulated by CUG binding protein in myotonic dystrophy. Science. 1998;280(5364):737-741. (Pubitemid 28243348)
10. Timchenko LT. Myotonic dystrophy: the role of RNA CUG repeats. Am J Hum Genet. 1999;64(2):360-364.
11. Mankodi A, et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science. 2000;289(5485):1769-1772.
12. Miller JW, et al. Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy. EMBO J. 2000;19(17):4439-4448.
13. Seznec H, et al. Mice transgenic for the human myotonic dystrophy with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet. 2002;10(23):2717-2726. (Pubitemid 33133413)
14. Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, Timchenko LT. RNA CUG repeats sequester and alter protein levels and activity of CUGBP1. J Biol Chem. 2001;276(11):7820-7826.
15. Timchenko NA, Iakova P, Cai ZJ, Smith JR, Timchenko LT. Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol. 2001;21(20):6927-6938. (Pubitemid 32911253)
16. Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 2001;29(1):40-47. (Pubitemid 32801806)
17. Kanadia RN, et al. A muscleblind knockout model for myotonic dystrophy. Science. 2003;302(5652):1978-1980. (Pubitemid 37523508)
18. Timchenko NA, Patel R, Iakova P, Cai ZJ, Quan L, Timchenko LT. Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J Biol Chem. 2004;279(13):13129-13139. (Pubitemid 38445891)
19. Mahadevan MS, et al. Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet. 2006;38(9):1066-1070. (Pubitemid 44325934)
20. Orengo JP, Chambon P, Metzger D, Mosier DR, Snipes GJ, Cooper TA. Expanded CTG repeats within the DMPK 3′ UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A. 2008;105(7):2646-2651. (Pubitemid 351520567)
21. Salisbury E, et al. Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. Exp Cell Res. 2008;314(11-12):2266-2278. (Pubitemid 351822334)
22. Huichalaf C, et al. Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. FASEB J. 2010;24(10):3706-3719.
23. Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science. 2004;303(5656):383-387. (Pubitemid 38095780)
24. Kuyumcu-Martinez NM, Wang GS, Cooper TA. Increased steady-state levels of CUGBP1 in myotonic dystrophy are due to PKC-mediated hyperphosphorylation. Mol Cell. 2007;28(1):68-78. (Pubitemid 47531966)
25. Timchenko NA, Welm AL, Lu X, Timchenko LT. CUG repeat binding protein (CUGBP1) interacts with the 5′ region of C/EBP beta mRNA and regulates translation of C/EBPbeta isoforms. Nucleic Acids Res. 1999;27(22):4517-4525. (Pubitemid 29533195)
26. Paillard L, Omilli F, Legagneux V, Bassez T, Maniey D, Osborne HB. EDEN and EDEN-BP, a cis element and an associated factor that mediate sequence-specific mRNA deadenylation in Xenopus embryos. EMBO J. 1998;17(1):278-287. (Pubitemid 28041068)
27. Webster PJ, Liang L, Berg CA, Lasko P, Macdonald PM. Translational repressor bruno plays multiple roles in development and is widely conserved. Genes Dev. 2007;11(19):2510-2521.
28. Moraes KC, Wilusz CJ, Wilusz J. CUG-BP binds to RNA substrates and recruits PARN deadenylase. RNA. 2006;12(6):1084-1091. (Pubitemid 43788126)
29. Timchenko NA, Wang GL, Timchenko LT. RNA CUG-binding protein 1 increases translation of 20-kDa isoform of CCAAT/Enhancer-binding protein beta by interacting with the alpha and beta subunits of eukaryotic initiation translation factor 2. J Biol Chem. 2005;280(21):20549-20557. (Pubitemid 40776756)
30. Lee JE, Lee JY, Wilusz J, Tian B, Wilusz CJ. Systematic analysis of cis-elements in unstable mRNAs demonstrates that CUGBP1 is a key regulator of mRNA decay in muscle cells. PLoS One. 2010;5(6):e11201.
31. Rattenbacher B, et al. Analysis of CUGBP1 targets identifies GU-repeat sequences that mediate rapid mRNA decay. Mol Cell Biol. 2010;30(16):3970-3980.
32. Timchenko LT, et al. Age-specific CUGBP1-eIF2 complex increases translation of CCAAT/Enhancer-binding protein beta in old liver. J Biol Chem. 2006;281(43):32806-32819. (Pubitemid 46036836)
33. Naderi S, et al. cAMP-induced degradation of cyclin D3 through association with GSK-3β. J Cell Sci. 2004;117(pt 17):3769-3783. (Pubitemid 39207316)
34. De Santa F, Albini S, Mezzaroma E, Baron L, Felsani A, Caruso M. pRb-dependent cyclin D3 protein stabilization is required for myogenic differentiation. Mol Cell Biol. 2007;27(20):7248-7265. (Pubitemid 47549759)
35. Doble BW, Woodgett JR. GSK-3: tricks of the trade for a multi-tasking kinase. J Cell Sci. 2003;116(pt 7):1175-1186. (Pubitemid 36410657)
36. Jin J, Wang GL, Shi X, Darlington GJ, Timchenko NA. The age-associated decline of glycogen synthase kinase 3β plays a critical role in the inhibition of liver regeneration. Mol Cell Biol. 2009; 29(14):3867-3880.
37. Cole A, Frame S, Cohen P. Further evidence that the tyrosine of glycogen synthase kinase-3 (GSK3) in mammalian cells is an autophosphorylation event. Biochem J. 2004;377(pt 1):249-255. (Pubitemid 38114452)
38. Jones K, et al. RNA foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2. Am J Pathol. 2011;179(5):2475-2489.
39. Morales F, et al. 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. 2012;21(16):3558-3567.
40. van Eyk CL, et al. Perturbation of the Akt/Gsk3-βsignaling pathway is common to Drosophila expressing expanded untranslated CAG, CUG, and AUUCU repeat RNAs. Hum Mol Genet. 2011;20(14):2783-2794.
41. Zu T, et al. Not-ATG-initiated translation directed by microsatellite. Proc Natl Acad Sci U S A. 2011;108(1):260-265.
42. Charlet-B N, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. Loss of the muscle-specific chloride ion channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell. 2002;10(1):45-53. (Pubitemid 34879148)
43. Mankodi A, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel premRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell. 2002;10(1):35-44. (Pubitemid 34879147)