Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

Acta Neuropathologica Communications

Volumn 4, Issue 1, 2016, Pages

  Winter, Lilli ^a   Türk, Matthias ^a   Harter, Patrick N ^b   Mittelbronn, Michel ^b   Kornblum, Cornelia ^c   Norwood, Fiona ^d   Jungbluth, Heinz ^e,f,g   Thiel, Christian T ^a   Schlötzer Schrehardt, Ursula ^a   Schröder, Rolf ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b GOETHE UNIVERSITY   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d KING S COLLEGE HOSPITAL   (United Kingdom)

^e ST THOMAS HOSPITAL   (United Kingdom)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Desmin; Epidermolysis bullosa simplex with muscular dystrophy; Intermediate filaments; Mitochondria; Plectin; Protein aggregates; Skeletal muscle

Indexed keywords

PLEC PROTEIN, HUMAN; PLECTIN;

ADULT; CASE REPORT; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENETICS; HEART ARRHYTHMIA; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; METABOLISM; MITOCHONDRION; MUTATION; PATHOLOGY; SKELETAL MUSCLE; YOUNG ADULT;

ADULT; ARRHYTHMIAS, CARDIAC; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMANS; MITOCHONDRIA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PLECTIN; YOUNG ADULT;

EID: 84983221516     PISSN: None     EISSN: 20515960     Source Type: Journal    
DOI: 10.1186/s40478-016-0314-7     Document Type: Article

References (26)

1. Andrä K, Kornacker I, Jörgl A, Zörer M, Spazierer D, Fuchs P, Fischer I, Wiche G. Plectin-isoform-specific rescue of hemidesmosomal defects in plectin (−/−) keratinocytes. J Invest Dermatol. 2003;120(2):189–97.
2. Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF. PLEC1 mutations underlie adultonset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. J Invest Dermatol. 2010;130(4):1178–81. doi:jid2009390.
3. Celik C, Uysal H, Heper AO, Karaoglan B. Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement. J Clin Neuromuscul Dis. 2005;6(4):157–61. doi:10.1097/01.cnd.0000159779.32828.e7.
4. Dubowitz V, Sewry CA, Oldfors A. Muscle biopsy: a practical approach. 4th ed. 2013.
5. Elliott CE, Becker B, Oehler S, Castañón MJ, Hauptmann R, Wiche G. Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms. Genomics. 1997;42(1):115–25.
6. Ketema M, Secades P, Kreft M, Nahidiazar L, Janssen H, Jalink K, de Pereda JM, Sonnenberg A. The rod domain is not essential for the function of plectin in maintaining tissue integrity. Mol Biol Cell. 2015;26(13):2402–17. doi:mbc.E15-01-0043.
7. Konieczny P, Fuchs P, Reipert S, Kunz WS, Zeöld A, Fischer I, Paulin D, Schröder R, Wiche G. Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms. J Cell Biol. 2008;181(4):667–81. doi:jcb.200711058.
8. Koster J, van Wilpe S, Kuikman I, Litjens SH, Sonnenberg A. Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes. Mol Biol Cell. 2004;15(3):1211–23. doi:10.1091/mbc.E03-09-0697.
9. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26(5):589–95. doi:btp698.
10. Maselli R, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis R, Gregg J, Sivak M, Konia T, Thomas K, Wollmann R. Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Clin Genet. 2010; doi:10.1111/j.1399-0004.2010.01602.x.
11. Mellerio JE, Smith FJ, McMillan JR, McLean WH, McGrath JA, Morrison GA, Tierney P, Albert DM, Wiche G, Leigh IM, Geddes JF, Lane EB, Uitto J, Eady RA. Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. Br J Dermatol. 1997;137(6):898–906.
12. Milner DJ, Mavroidis M, Weisleder N, Capetanaki Y. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol. 2000;150(6):1283–98.
13. Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. Hum Mutat. 2010;31(3): 308–16. doi:10.1002/humu.21189.
14. Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP. Integrative genomics viewer. Nat Biotechnol. 2011;29(1):24–6. doi:nbt.1754.
15. Schröder R. Protein aggregate myopathies: the many faces of an expanding disease group. Acta Neuropathol. 2013;125(1):1–2. doi:10.1007/s00401-012-1071-8.
16. Schröder R, Furst DO, Klasen C, Reimann J, Herrmann H, van der Ven PF. Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton. Lab Invest. 2000;80(4):455–64.
17. Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Furst DO, Blumcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol. 2002;61(6):520–30.
18. Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009;19(3):483–92. doi:BPA289.
19. Villa CR, Ryan TD, Collins JJ, Taylor MD, Lucky AW, Jefferies JL. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscul Disord. 2015;25(2):165–8. doi:S0960-8966(14)00656-7.
20. Wiche G, Krepler R, Artlieb U, Pytela R, Denk H. Occurrence and immunolocalization of plectin in tissues. J Cell Biol. 1983;97(3):887–901.
21. Wiche G, Winter L. Plectin isoforms as organizers of intermediate filament cytoarchitecture. Bioarchitecture. 2011;1(1):14–20. doi:10.4161/bioa.1.1.14630.
22. Winter L, Kuznetsov AV, Grimm M, Zeold A, Fischer I, Wiche G. Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle. Hum Mol Genet. 2015;24(16): 4530–44. doi:ddv184.
23. Winter L, Schröder R, Wiche G. Plectinopathies. Muscle Disease: Pathology and Genetics - Second Edition, chapter 20B, International Society of Neuropathology (ISN) Book Series. 2013.
24. Winter L, Staszewska I, Mihailovska E, Fischer I, Goldmann WH, Schroder R, Wiche G. Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle. J Clin Invest. 2014;124(3):1144–57. doi:10.1172/JCI71919.
25. Winter L, Wiche G. The many faces of plectin and plectinopathies: pathology and mechanisms. Acta Neuropathol. 2013;125(1):77–93. doi:10.1007/s00401-012-1026-0.
26. Xue ZG, Cheraud Y, Brocheriou V, Izmiryan A, Titeux M, Paulin D, Li Z. The mouse synemin gene encodes three intermediate filament proteins generated by alternative exon usage and different open reading frames. Exp Cell Res. 2004;298(2):431–44. doi:10.1016/j.yexcr.2004.04.023.