Laminopathies affecting skeletal and cardiac muscles: Clinical and pathophysiological aspects

Acta Myologica

Volumn 24, Issue 2, 2005, Pages 104-109

  Decostre, V ^b   Yaou, R Ben ^b   Bonne, Gisèle ^a  

^a INSERM   (France)

^b NONE

Author keywords

Laminopathies; Nuclear envelope; Striated muscle

Indexed keywords

LAMIN A; LAMIN C;

CLINICAL FEATURE; CONFERENCE PAPER; CONGESTIVE CARDIOMYOPATHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE MUTATION; GENETIC DISORDER; HEART MUSCLE; HEART MUSCLE CONDUCTION DISTURBANCE; LAMINOPATHY; LIMB GIRDLE MUSCULAR DYSTROPHY; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PREMATURE AGING; SKELETAL MUSCLE; TISSUE SPECIFICITY;

ANIMALS; CARDIOMYOPATHY, DILATED; DISEASE MODELS, ANIMAL; HUMANS; LAMIN TYPE A; LAMINS; LEUCINE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MYOCARDIUM; NUCLEAR ENVELOPE; PROLINE;

EID: 33344464944     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (61)

1. 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 2005;83(1):79-83.
2. Emery AEH. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromusc Disord 2000;10:228-32.
3. Emery AEH, Dreifuss FE. Unusual type of benign X-linked muscular dystrophy. J. Neurol. Neurosurg. Psychiat. 1966;29:338-42.
4. Bione S, Maestrini E, Rivella S et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 1994;8:323-7.
5. Bonne G, Di Barletta MR, Varnous S et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genet 1999;21(3):285-8.
6. Bonne G, Mercuri E, Muchir A et al. Clinical and molecular genetic spectrum of autosomal dominant Emery Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000;48(2):170-80.
7. Boriani G, Gallina M, Merlini L et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003;34(4):901-8.
8. Vytopil M, Benedetti S, Ricci E et al. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet 2003;40(12):e132.
9. Bonne G, Ben Yaou R, Beroud C et al. 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromusc Disord 2003;13:508-15.
10. Mercuri E, Poppe M, Quinlivan R et al. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004;61(5):690-4.
11. Mercuri E, Brown SC, Nihoyannopoulos P et al. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve 2005;31(5):602-9.
12. van der Kooi AJ, Ledderhof TM, de Voogt WG et al. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996;39(5):636-42.
13. 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(9):1453-9.
14. Kitaguchi T, Matsubara S, Sato M et al. A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromusc Disord 2001;11(6-7):542-6.
15. Muchir A, van Engelen BG, Lammens M et al. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res 2003;291(2):352-62.
16. Ben Yaou R, Becane HM, Demay L et al. Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations. Rev Neurol (Paris) 2005;161(1):42-54.
17. Charniot JC, Pascal C, Bouchier C et al. Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. Hum Mutat 2003;21(5):473-81.
18. 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(23):1715-24.
19. Bécane H-M, 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;23(11):1661-6.
20. Arbustini E, Pilotto A, Repetto A et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 2002;39(6):981-90.
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(5):771-80.
22. 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(8):560-7.
23. 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;5:821-5.
24. 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(1):50-4.
25. 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(3):726-36.
26. Goizet C, Ben Yaou R, Demay L et al. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia. J Med Genet 2004;41(3):E29.
27. Benedetti S, Bertini E, Iannaccone S et al. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry 2005;76(7):1019-21.
28. Shackleton S, Lloyd DJ, Jackson SN et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genet 2000;24(2):153-6.
29. Novelli G, Muchir A, Sangiuolo F et al. Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C. Am J Hum Genet 2002;71:426-31.
30. De Sandre-Giovannoli A, Bernard R, Cau P et al. Lamin A truncation in Hutchinson-Gilford progeria. Science 2003;300:2055.
31. Eriksson M, Brown WT, Gordon LB et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;25:25.
32. Navarro C, De Sandre-Giovannoli A, Bernard R et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganisation and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004;13(20):2493-503.
33. van Engelen BG, Muchir A, Hutchison CJ et al. The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. Neurology 2005;64(2):374-6.
34. Chen L, Lee L, Kudlow B et al. LMNA mutations in atypical Werner's syndrome. Lancet 2003;362(9382):440-5.
35. Bonne G, Levy N. LMNA mutations in atypical Werner's syndrome. Correspondance to the editors. Lancet 2003;362:1585-6.
36. Vigouroux C, Caux F, Capeau J et al. LMNA mutations in atypical Werner's syndrome. Lancet 2003;362(9395):1585; author reply 1586.
37. Garg A, Speckman RA, Bowcock AM. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med 2002;112(7):549-55.
38. van der Kooi AJ, Bonne G, Eymard B et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002;59(4):620-23.
39. Vantyghem MC, Pigny P, Maurage CA et al. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocrinol Metab 2004;89(11):5337-46.
40. Kirschner J, Brune T, Wehnert M et al. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol 2005;57(1):148-51.
41. Gruenbaum Y, Margalit A, Goldman RD et al. The nuclear lamina comes of age. Nat Rev Mol Cell Biol 2005;6(1):21-31.
42. Hutchison CJ, Alvarez-Reyes M, Vaughan OA. Laminas in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? J Cell Sci 2001;114(Pt 1):9-19.
43. McKeon FD, Kirschner MW, Caput D. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature 1986;319(6053):463-8.
44. Hutchison CJ, Worman HJ. A-type lamins: Guardians of the soma? Nat Cell Biol 2004;6(11):1062-7.
45. Aebi U, Cohn J, Buhle L et al. The nuclear lamina is a meshwork of intermediate-type filaments. Nature 1986;323:560-4.
46. Jenkins H, Holman T, Lyon C et al. Nuclei that lack a lamina accumulate karyophilic proteins and assemble a nuclear matrix. J Cell Sci 1993;106(Pt 1):275-85.
47. Meier J, Campbell KH, Ford CC et al. The role of lamin LIII in nuclear assembly and DNA replication, in cell-free extracts of Xenopus eggs. J Cell Sci 1991;98(Pt 3):271-9.
48. Spann TP, Goldman AE, Wang C et al. Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription. J Cell Biol 2002;156(4):603-8.
49. Dreuillet C, Tillit J, Kress M et al. In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C. Nucleic Acids Res 2002;30(21):4634-42.
50. Lloyd DJ, Trembath RC, Shackleton S. A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. Hum Mol Genet 2002;11(7):769-77.
51. Ozaki T, Saijo M, Murakami K et al. Complex formation between lamin A and the retinoblastoma gene product: identification of the domain on lamin A required for its interaction. Oncogene 1994;9(9):2649-53.
52. 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(5):913-20.
53. Broers JL, Peeters EA, Kuijpers HJ et al. Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies. Hum Mol Genet 2004;13(21):2567-80.
54. Lammerding J, Schulze PC, Takahashi T et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 2004;113(3): 370-8.
55. Lammerding J, Hsiao J, Schulze PC et al. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J Cell Biol 2005;170(5):781-91.
56. Mounkes LC, Kozlov SV, Rottman JN et al. Expression of a LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. Hum Mol Genet 2005;14(15):2167-80.
57. Mounkes LC, Kozlov S, Hernandez L et al. A progeroid syndrome in mice is caused by defects in A-type lamins. Nature 2003;423(6937):298-301.
58. 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(1):155-69.
59. Muchir A, Medioni J, Laluc M et al. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve 2004;30(4):444-50.
60. Favreau C, Higuet D, Courvalin JC et al. Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. Mol Cell Biol 2004;24(4):1481-92.
61. Markiewicz E, Ledran M, Hutchison CJ. Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro. J Cell Sci 2005; 118(Pt 2):409-20.