'State-of-the-heart' of cardiac laminopathies

Current Opinion in Cardiology

Volumn 28, Issue 3, 2013, Pages 297-304

  Cattin, Marie Elodie ^a,b   Muchir, Antoine ^a,b   Bonne, Gisèle ^a,b,c  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

conduction system disease; dilated cardiomyopathy; lamin A C; LMNA

Indexed keywords

LAMIN A; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE B; SELUMETINIB;

AUTOPHAGY; CELL DIFFERENTIATION; CELL METABOLISM; CELL PROLIFERATION; CHROMOSOME 1Q; CONGESTIVE CARDIOMYOPATHY; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; LAMINOPATHY; MICROARRAY ANALYSIS; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SOMATIC CELL;

ANIMALS; CARDIOMYOPATHY, DILATED; HUMANS; LAMIN TYPE A; MICE; MITOGEN-ACTIVATED PROTEIN KINASES; MYOCARDIUM; PROTO-ONCOGENE PROTEINS C-AKT; TOR SERINE-THREONINE KINASES;

EID: 84876287607     PISSN: 02684705     EISSN: 15317080     Source Type: Journal    
DOI: 10.1097/HCO.0b013e32835f0c79     Document Type: Review

References (61)

1. Bonne G, Di Barletta MR, 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.
2. 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.
3. Muchir A, Bonne G, van der Kooi AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances [LGMD1B]. Hum Mol Genet 2000; 9:1453-1459.
4. Quijano-Roy S, Mbieleu B, Bonnemann CG, et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008; 64:177-186.
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. Lin F, Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 1993; 268:16321-16326.
7. Rober RA, Weber K, Osborn M. Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study. Development 1989; 105:365-378.
8. Aebi U, Cohn J, Buhle L, Gerace L. The nuclear lamina is a meshwork of intermediate-type filaments. Nature 1986; 323:560-564.
9. Crisp M, Liu Q, Roux K, et al. Coupling of the nucleus and cytoplasm: role of the LINC complex. J Cell Biol 2006; 172:41-53.
10. Dechat T, Korbei B, Vaughan OA, et al. Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins. J Cell Sci 2000; 113 (Pt 19): 3473-3484.
11. 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.
12. Luk A, Ahn E, Soor GS, Butany J. Dilated cardiomyopathy: a review. J Clin Pathol 2009; 62:219-225.
13. Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011; 57:1641-1649.
14. Parks SB, Kushner JD, Nauman D, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyo-pathy. Am Heart J 2008; 156:161-169.
15. Perrot A, Sigusch HH, Nagele H, et al. Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers. Eur J Heart Fail 2006; 8:484-493.
16. Arbustini E, Pilotto A, Repetto A, et al. Autosomal dominant dilated cardio-myopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 2002; 39:981-990.
17. Becane HM, Bonne G, Varnous S, et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000; 2311 (Pt 1):1661-1666.
18. Meune C, Van Berlo JH, 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.
19. Otomo J, Kure S, Shiba T, et al. Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene. J Cardiovasc Electrophysiol 2005; 16:137-145.
20. Sebillon P, Bouchier C, Bidot LD, et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet 2003; 40:560-567.
21. Taylor MR, Fain PR, Sinagra G, et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003; 41:771-780.
22. van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, et al. Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. J Am Coll Cardiol 2007; 49:2430-2439.
23. van Berlo JH, de Voogt WG, van der Kooi AJ, 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 (Berl) 2005; 83:79-83.
24. Forissier JF, Bonne G, Bouchier C, et al. Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. Eur J Heart Fail 2003; 5:821-825.
25. Hermida-Prieto M, Monserrat L, Castro-Beiras A, et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 2004; 94:50-54.
26. Quarta G, Syrris P, Ashworth M, et al. Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2012; 33:1128-1136.
27. van Rijsingen IA, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 2012; 59:493-500.
28. van Rijsingen IA, Nannenberg EA, Arbustini E, et al. Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. Eur J Heart Fail 2012. [Epub ahead of print]
29. Worman HJ, Bonne G. Laminopathies: a wide spectrum of human diseases. Exp Cell Res 2007; 313:2121-2133.
30. Hegele R. LMNA mutation position predicts organ system involvement in laminopathies. Clin Genet 2005; 68:31-34.
31. Benedetti S, Menditto I, Degano M, et al. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology 2007; 69:1285-1292.
32. Bertrand AT, Chikhaoui K, Yaou RB, Bonne G. Clinical and genetic heterogeneity in laminopathies. Biochem Soc Trans 2011; 39:1687-1692.
33. Narula N, Favalli V, Tarantino P, et al. Quantitative expression of the mutated lamin a/c gene in patients with cardiolaminopathy. J Am Coll Cardiol 2012;60:1916-1920.
34. Brodsky GL, Muntoni F, Miocic S, et al. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000; 101:473-476.
35. Granger B, Gueneau L, Drouin-Garraud V, et al. Modifier locus of the skeletal muscle involvementin Emery-Dreifuss muscular dystrophy. Hum Genet 2011;129:149-159.
36. Sullivan T, Escalante-Alcalde D, Bhatt H, et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 1999; 147:913-920.
37. 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.
38. Wang Y, Herron AJ, Worman HJ. Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy. Hum Mol Genet 2006; 15:2479-2489.
39. Mounkes LC, Kozlov SV, Rottman JN, Stewart CL. Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. Hum Mol Genet 2005; 14:2167-2180.
40. Kubben N, Voncken JW, Konings G, et al. Postnatal myogenic and adipogenic developmental: defects and metabolic impairment upon loss of A-type lamins. Nucleus 2011; 2:195-207.
41. Jahn D, Schramm S, Schnolzer M, et al. A truncated lamin Ain the Lmna[-/-] mouse line: implications for the understanding of laminopathies. Nucleus 2012; 3:463-474.
42. Bertrand AT, Renou L, Papadopoulos A, et al. DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. Hum Mol Genet 2012; 21:1037-1048.
43. De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 2002; 70:726-736.
44. Nikolova V, Leimena C, McMahon AC, et al. Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest 2004; 113:357-369.
45. Wolf CM, Wang L, Alcalai R, et al. Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. J Mol Cell Cardiol 2008; 44:293-303.
46. Chandar S, Yeo LS, Leimena C, et al. Effects of mechanical stress and carvedilol in lamin A/C-deficient dilated cardiomyopathy. Circ Res 2010; 106:573-582.
47. Cupesi M, Yoshioka J, Gannon J, et al. Attenuated hypertrophic response to pressure overload in a lamin A/C haploinsufficiency mouse. J Mol Cell Cardiol 2010; 48:1290-1297.
48. Frock RL, Chen SC, Da DF, et al. Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/-mice. PLoS One 2012;7:e42918.
49. 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.
50. Muchir A, Wu W, Choi JC, et al. Abnormal p38alpha mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation. Hum Mol Genet 2012; 21:4325-4333.
51. Choi JC, Muchir A, Wu W, et al. Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation. Sci Transl Med 2012; 4:144ra02.
52. Ramos FJ, Chen SC, Garelick MG, et al. Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival. Sci Transl Med 2012; 4:144ra03.
53. Muchir A, Reilly SA, Wu W, et al. Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene. Cardiovasc Res 2012; 93:311-319.
54. Davis RJ. The mitogen-activated protein kinase signal transduction pathway. J Biol Chem 1993; 268:14553-14556.
55. Seger R, Krebs EG. The MAPK signaling cascade. FASEB J 1995; 9:726-735.
56. Codogno P, Meijer AJ. Autophagy and signaling: their role in cell survival and cell death. Cell Death Differ 2005; 12 (Suppl 2):1509-1518.
57. Choi JC, Wu W, Muchir A, et al. Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation. J Biol Chem 2012; 287:40513-40524.
58. Communal C, Colucci WS, Remondino A, et al. Reciprocal modulation of mitogen-activated protein kinases and mitogen-activated protein kinase phosphatase 1 and 2 in failing human myocardium. J Card Fail 2002; 8: 86-92.
59. Brooks WW, Shen SS, Conrad CH, et al. Transition from compensated hypertrophy to systolic heart failure in the spontaneously hypertensive rat: Structure, function, and transcript analysis. Genomics 2010; 95:84-92.
60. Galindo CL, Skinner MA, Errami M, et al. Transcriptional profile of iso-proterenol-induced cardiomyopathy and comparison to exercise-induced cardiac hypertrophy and human cardiac failure. BMC Physiol 2009; 9:23.
61. Wu W, Muchir A, Shan J, et al. Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene. Circulation 2011; 123:53-61.