PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy

Journal of Investigative Dermatology

Volumn 130, Issue 4, 2010, Pages 1178-1181

  Bolling, Maria C ^a   Pas, Hendri H ^a   De Visser, Marianne ^b   Aronica, Eleonora ^b   Pfendner, Ellen G ^c   Van Den Berg, Maarten P ^a   Diercks, Gilles F H ^a   Suurmeijer, Albert J H ^a   Jonkman, Marcel F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PLECTIN;

ADULT; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; EPIDERMOLYSIS BULLOSA SIMPLEX; HEART MUSCLE FIBROSIS; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE TACHYCARDIA; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LETTER; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN MANIFESTATION; STOP CODON;

EID: 77949541758     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2009.390     Document Type: Letter

References (24)

1. Andra K, Lassmann H, Bittner R et al. (1997) Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes Dev 11:3143-3156
2. Andra K, Nikolic B, Stocher M et al. (1998) Not just scaffolding: plectin regulates actin dynamics in cultured cells. Genes Dev 12:3442-3451
3. Eger A, Stockinger A, Wiche G et al. (1997) Polarisation-dependent association of plectin with desmoplakin and the lateral submem-brane skeleton in MDCK cells. J Cell Sci 110(Pt 11):1307-1316
4. Elliott P, Andersson B, Arbustini E et al. (2008) Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 29:270-276
5. Geerts D, Fontao L, Nievers MG et al. (1999) Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding. J Cell Biol 147:417-434
6. Hijikata T, Nakamura A, Isokawa K et al. (2008) Plectin 1 links intermediate filaments to costameric sarcolemma through beta-syne-min, alpha-dystrobrevin and actin. J Cell Sci 121:2062-2074
7. Konieczny P, Fuchs P, Reipert S et al. (2008) Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms. J Cell Biol 181:667-681
8. Konieczny P, Wiche G (2008) Muscular integrity-a matter of interlinking distinct structures via plectin. Adv Exp Med Biol 642:165-175
9. Koster J, Geerts D, Favre B et al. (2003) Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly. J Cell Sci 116:387-399
10. McLean WH, Pulkkinen L, Smith FJ et al. (1996) Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 10:1724-1735
11. McMillan JR, Akiyama M, Rouan F et al. (2007) Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. Muscle Nerve 35:24-35
12. Nakamura H, Sawamura D, Goto M et al. (2005) Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn 7:28-35
13. Pfendner E, Rouan F, Uitto J (2005) Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp Dermatol 14:241-249
14. Rezniczek GA, de Pereda JM, Reipert S et al. (1998) Linking integrin alpha6beta4-based cell adhesion to the intermediate filament cytoskeleton: direct interaction between the beta4 subunit and plectin at multiple molecular sites. J Cell Biol 141:209-225
15. Rezniczek GA, Konieczny P, Nikolic B et al. (2007) Plectin 1f scaffolding at the sarcolem-ma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. J Cell Biol 176:965-977
16. Schroder R, Kunz WS, Rouan F et al. (2002) Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neu-rol 61:520-530
17. Schroder R, Mundegar RR, Treusch M et al. (1997) Altered distribution of plectin/ HD1 in dystrophinopathies. Eur J Cell Biol 74:165-171
18. Sherry ST, Ward MH, Kolodov M et al. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acid Res 29:308-311
19. Sonnenberg A, Liem RK (2007) Plakins in development and disease. Exp Cell Res 313:2189-2203
20. Sonnenberg A, Rojas AM, de Pereda JM (2007) The structure of a tandem pair of spectrin repeats of plectin reveals a modular organization of the plakin domain. J Mol Biol 368:1379-1391
21. van Tintelen JP, Hofstra RM, Wiesfeld AC et al. (2007) Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon? Curr Opin Cardiol 22:185-192
22. Wiche G (1998) Role of plectin in cytoskeleton organization and dynamics. J Cell Sci 111(Pt 17):2477-2486
23. Wiche G, Krepler R, Artlieb U et al. (1983) Occurrence and immunolocalization of plec-tin in tissues. J Cell Biol 97:887-901
24. Wilhelmsen K, Litjens SH, Kuikman I et al. (2005) Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin. J Cell Biol 171:799-810