Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy

Neuromuscular Disorders

Volumn 25, Issue 2, 2015, Pages 127-136

  Meinke, Peter ^a   Schneiderat, Peter ^b   Srsen, Vlastimil ^a   Korfali, Nadia ^a   Lê Thành, Phú ^a   Cowan, Graeme J M ^a   Cavanagh, David R ^a   Wehnert, Manfred ^c   Schirmer, Eric C ^a   Walter, Maggie C ^b  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

EMD; Emerin; Emery Dreifuss muscular dystrophy; Myoblast differentiation; X inactivation

Indexed keywords

CREATINE KINASE; EMERIN; LAMIN A; SMALL INTERFERING RNA; AUTOANTIGEN; CELL CYCLE PROTEIN; KI 67 ANTIGEN; LEUKOCYTE ANTIGEN; MEMBRANE PROTEIN; NUCLEAR PROTEIN; PCM1 PROTEIN, HUMAN;

ACHILLES TENDON; ADULT; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CELL LOSS; CELL PROLIFERATION; CELLULAR, SUBCELLULAR AND MOLECULAR BIOLOGICAL PHENOMENA AND FUNCTIONS; CHROMOSOME INACTIVATION; CONTROLLED STUDY; DISEASE SEVERITY; EMD GENE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILY HISTORY; FEMALE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; JOINT CONTRACTURE; MEDICAL HISTORY; MOLECULAR PATHOLOGY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOBLAST; NUCLEAR LOBULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PROTEIN DEPLETION; PROTEIN EXPRESSION; SINUS ARRHYTHMIA; SKELETAL MUSCLE SATELLITE CELL; STOP CODON; X CHROMOSOME INACTIVATION; ADOLESCENT; CARDIOMYOPATHIES; CELL CULTURE; CHILD; COMPLICATION; FAMILY HEALTH; FLOW CYTOMETRY; GENETIC TRANSFECTION; GENETICS; MALE; METABOLISM; PATHOLOGY; PHYSIOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; ANTIGENS, CD; AUTOANTIGENS; CARDIOMYOPATHIES; CELL CYCLE PROTEINS; CELL DIFFERENTIATION; CELL PROLIFERATION; CELLS, CULTURED; CHILD; FAMILY HEALTH; FEMALE; FLOW CYTOMETRY; HUMANS; KI-67 ANTIGEN; LAMIN TYPE A; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MYOBLASTS; NUCLEAR PROTEINS; RNA, SMALL INTERFERING; TRANSFECTION; YOUNG ADULT;

EID: 84921031904     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.09.012     Document Type: Article

References (32)

1. Emery A.E.H. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord 2000, 10:228-232.
2. Wehnert M.S., Meinke P. LiNC complex and human genetic muscular disease 2012, John Wiley & Sons Ltd, Chichester, eLS. http://www.els.net.
3. 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.
4. Bione S., Maestrini E., Rivella S., et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994, 8:323-327.
5. Manilal S., Nguyen T.M., Sewry C.A., Morris G.E. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996, 5:801-808.
6. Muchir A., Worman H.J. Emery-Dreifuss muscular dystrophy. Curr Neurol Neurosci Rep 2007, 7:78-83.
7. Emery A.E. Emery-Dreifuss syndrome. J Med Genet 1989, 26:637-641.
8. Meinke P., Nguyen T.D., Wehnert M.S. The LINC complex and human disease. Biochem Soc Trans 2011, 39:1693-1697.
9. Muntoni F., Bonne G., Goldfarb L.G., et al. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 2006, 129:1260-1268.
10. Taranum S., Vaylann E., Meinke P., et al. LINC complex alterations in DMD and EDMD/CMT fibroblasts. Eur J Cell Biol 2012, 91:614-628.
11. Li P., Meinke P., Huong le T.T., Wehnert M., Noegel A.A. Contribution of SUN1 mutations to the pathomechanism in muscular dystrophies. Hum Mutat 2014, 35:452-461.
12. 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, 48:170-180.
13. Granger B., Gueneau L., Drouin-Garraud V., et al. Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. Hum Genet 2011, 129:149-159.
14. Hoeltzenbein M., Karow T., Zeller J.A., et al. Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 1999, 9:166-170.
15. 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, 61:690-694.
16. Rankin J., Auer-Grumbach M., Bagg W., et al. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A 2008, 146A:1530-1542.
17. Scholzen T., Gerdes J. The Ki-67 protein: from the known and the unknown. J Cell Physiol 2000, 182:311-322.
18. Srsen V., Fant X., Heald R., Rabouille C., Merdes A. Centrosome proteins form an insoluble perinuclear matrix during muscle cell differentiation. BMC Cell Biol 2009, 10:28.
19. Manilal S., Sewry C.A., Pereboev A., et al. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1999, 8:353-359.
20. Salpingidou G., Smertenko A., Hausmanowa-Petrucewicz I., Hussey P.J., Hutchison C.J. A novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membrane. J Cell Biol 2007, 178:897-904.
21. Yates J.R., Bagshaw J., Aksmanovic V.M., et al. Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromuscul Disord 1999, 9:159-165.
22. Manilal S., Recan D., Sewry C.A., et al. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 1998, 7:855-864.
23. Wehnert M.S., Bonne G. The nuclear muscular dystrophies. Semin Pediatr Neurol 2002, 9:100-107.
24. Sakata K., Shimizu M., Ino H., et al. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 2005, 111:3352-3358.
25. Dabauvalle M.C., Muller E., Ewald A., Kress W., Krohne G., Muller C.R. Distribution of emerin during the cell cycle. Eur J Cell Biol 1999, 78:749-756.
26. Ellis J.A., Craxton M., Yates J.R.W., Kendrick-Jones J. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. J Cell Sci 1998, 111:781-792.
27. Fairley E.A.L., Riddell A., Ellis J.A., Kendrick-Jones J. The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype. J Cell Sci 2002, 115:341-354.
28. Markiewicz E., Tilgner K., Barker N., et al. The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus. EMBO J 2006, 25:3275-3285.
29. Morris G.E. Protein interactions, right or wrong, in Emery-Dreifuss muscular dystrophy. Symp Soc Exp Biol 2004, (56):57-68.
30. Melcon G., Kozlov S., Cutler D.A., et al. Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum Mol Genet 2006, 15:637-651.
31. Shin J.Y., Mendez-Lopez I., Wang Y.X., et al. Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. Dev Cell 2013, 26:591-603.
32. Dedeic Z., Cetera M., Cohen T.V., Holaska J.M. Emerin inhibits Lmo7 binding to the Pax3 and MyoD promoters and expression of myoblast proliferation genes. J Cell Sci 2011, 124:1691-1702.