Mitogen-Activated Protein Kinase Inhibitor Regulation of Heart Function and Fibrosis in Cardiomyopathy Caused by Lamin A/C Gene Mutation

Trends in Cardiovascular Medicine

Volumn 20, Issue 7, 2010, Pages 217-221

  Muchir, Antoine ^a   Wu, Wei ^a   Worman, Howard J ^a  

^a Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 (2 AMINO 3 METHOXYPHENYL)CHROMONE; ANTHRA[1,9 CD]PYRAZOL 6(2H) ONE; LAMIN A; LAMIN C; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE INHIBITOR; STRESS ACTIVATED PROTEIN KINASE;

CELL DEATH; CELL NUCLEUS MEMBRANE; CELL PROLIFERATION; CONGESTIVE CARDIOMYOPATHY; DNA REPLICATION; ENZYME INHIBITION; ENZYME PHOSPHORYLATION; ENZYME REGULATION; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; HEART EJECTION FRACTION; HEART FUNCTION; HEART MUSCLE CELL; HEART MUSCLE FIBROSIS; HUMAN; NONHUMAN; PRIORITY JOURNAL; REVIEW; RNA SPLICING; SIGNAL TRANSDUCTION; STRESS;

ANIMALS; CARDIOMYOPATHY, DILATED; FIBROSIS; HEART; HUMANS; JNK MITOGEN-ACTIVATED PROTEIN KINASES; LAMIN TYPE A; MICE; MICE, TRANSGENIC; MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION; MYOCARDIUM; PROTEIN KINASE INHIBITORS; SIGNAL TRANSDUCTION;

EID: 84863066305     PISSN: 10501738     EISSN: 18732615     Source Type: Journal    
DOI: 10.1016/j.tcm.2011.11.002     Document Type: Review

References (43)

1. Adjei A.A., Cohen R.B., Franklin W., et al. Phase I pharmacokinetics and pharmacodynamics study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. J Clin Oncol 2008, 26:2139-2146.
2. Aebi U., Cohn J., Buhle L., Gerace L. The nuclear lamina is a meshwork of intermediate-type filaments. Nature 1986, 323:560-564.
3. Arimura T., Helbling-Leclerc A., Massart C., et al. Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. Hum Mol Genet 2005, 14:155-169.
4. Bekaii-Saab T., Phelps M.A., Li X., et al. Multi-institutional phase II study of selumetinib in patients with metastatic biliary cancer. J Clin Oncol 2011, 29:2357-2363.
5. Ben Yaou R., Gueneau L., Demay L., et al. Heart involvement in lamin A/C related diseases. Arch Mal Coeur Vaiss 2006, 99:848-855.
6. Bonne G., Di Barletta M.R., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999, 21:285-288.
7. -/- cells is caused by defective nucleo-cytoskeletal integrity: Implications for the development of laminopathies. Hum Mol Genet 2004, 13:2567-2580.
8. Chang Y., Karin M. Mammalian MAP kinase signalling cascades. Nature 2001, 410:37-40.
9. Davies B.S.J., Coffinier C., Yang S.H., et al. Investigating the purpose of prelamin A processing. Nucleus 2011, 2:4-9.
10. Dechat T., Pfleghaar K., Sengupta K., et al. Nuclear lamins: Major factors in the structural organization and function of the nucleus and chromatin. Genes Dev 2008, 22:832-853.
11. Fatkin D., MacRae C., Sasaki T., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999, 341:1715-1724.
12. Fisher D.Z., Chaudhary N., Blobel G. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc Natl Acad Sci USA 1986, 83:6450-6454.
13. Golzio P.G., Chiribiri A., Gaita F. Unexpected sudden death avoided by implantable cardioverter-defibrillator in Emery-Dreifuss patient. Europace 2007, 9:1158-1160.
14. Gonzalez J.M., Navarro-Puche A., Casar B., et al. Fast regulation of AP-1 activity through interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear envelope. J Cell Biol 2008, 183:653-666.
15. Haq S., Choukroun G., Lim H., et al. Differential activation of signal transduction pathways in human hearts with hypertrophy versus advanced heart failure. Circulation 2001, 103:670-677.
16. Lammerding J., Schulze P.C., Takahashi T., et al. Lamin A/C deficiency causes defective nuclear mechanics and machanotransduction. J Clin Invest 2004, 113:370-378.
17. Lin F., Worman H.J. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 1993, 268:16321-16326.
18. Luk A., Ahn E., Soor G.S., Butany J. Dilated cardiomyopathy: A review. J Clin Pathol 2009, 62:219-225.
19. McKeon F.D., Kirschner M.W., Caput D. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature 1986, 319:463-468.
20. McKinsey T.A., Olsen E.N. Cardiac hypertrophy: Sorting out the circuitry. Curr Opin Genet Dev 1999, 9:267-274.
21. Meune C., Van Berlo J.H., Anselme F., et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006, 354:209-210.
22. Michels V.V., Moll P., Miller F.A., et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992, 326:77-82.
23. Millat G., Bouvagnet P., Chevalier P., et al. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur J Med Genet 2011, 54:e570-e575.
24. Mitchell S., Ota A., Foster W., et al. Distinct gene expression profiles in adult mouse heart following targeted MAP kinase activation. Physiol Genom 2006, 25:50-59.
25. Molkentin J.D. Calcineurin-NFAT signaling regulates the cardiac hypertrophic response in coordination with the MAPKs. Cardiovasc Res 2004, 63:467-475.
26. Morita H., Seidman J., Seidman C.E. Genetic causes of human heart failure. J Clin Invest 2005, 115:518-526.
27. Muchir A., Pavlidis P., Decostre V., et al. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest 2007, 117:1282-1293.
28. Muchir A., Shan J., Bonne G., et al. Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. Hum Mol Genet 2009, 18:241-247.
29. O'Neil B.H., Goff L.W., Kauh J.S., et al. Phase II study of the mitogen-activated protein kinase 1/2 inhibitor selumetinib in patients with advanced hepatocellular carcinoma. J Clin Oncol 2011, 29:2350-2356.
30. Pasotti M., Klersy C., Pilotto A., et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008, 52:1250-1260.
31. Petrich B.G., Wang Y. Stress-activated MAP kinases in cardiac remodeling and heart failure; New insights from transgenic studies. Trends Cardiovasc Med 2004, 14:50-55.
32. Sanna T., Dello Russo A., Toniolo D., et al. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003, 24:2227-2236.
33. Schwartz K., Chassagne C., Boheler K.R. The molecular biology of heart failure. J Am Coll Cardiol 1993, 22:30A-33A.
34. Seger R., Krebs E.G. The MAPK signaling cascade. FASEB J 1995, 9:726-735.
35. Stewart C.L., Kozlov S., Fong L.G., Young S.G. Mouse models of the laminopathies. Exp Cell Res 2007, 313:2144-2156.
36. Stewart C.L., Roux K.J., Burke B. Blurring the boundary: The nuclear envelope extends its reach. Science 2007, 318:1408-1412.
37. Taylor M.R.G., Fain P.R., Sinagra G., et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003, 41:771-780.
38. Theodosiou A., Ashworth A. MAP kinase phosphatases. Genome Biol 2002, 3. reviews3009.1-reviews3009.10.
39. Van Berlo J.H., de Voogt W.G., van der Kooi A.J., et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A/C mutations portend a high risk of sudden death?. J Mol Med 2005, 83:79-83.
40. Worman H.J., Fong L.G., Muchir A., Young S.G. Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest 2009, 119:1825-1836.
41. Wu W., Muchir A., Shan J., et al. Mitogen activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by lamin A/C gene mutation. Circulation 2011, 123:53-61.
42. Wu W., Shan J., Bonne G., et al. Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene. Biochim Biophys Acta 2010, 1802:632-638.
43. Wydner K.L., McNeil J.A., Lin F., et al. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. Genomics 1996, 32:474-478.