Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

American Journal of Pathology

Volumn 178, Issue 5, 2011, Pages 2224-2235

  Cowling, Belinda S ^a,b,c   Toussaint, Anne ^a,b,c   Amoasii, Leonela ^a,b,c   Koebel, Pascale ^a,c   Ferry, Arnaud ^d   Davignon, Laurianne ^a,b,c   Nishino, Ichizo ^e   Mandel, Jean Louis ^a,b,c   Laporte, Jocelyn ^a,b,c  

^a Paris Sciences et Lettres   (France)

^b INSERM   (France)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN II; PARVOVIRUS VECTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL NUCLEUS; CENTRONUCLEAR MYOPATHY; CONTROLLED STUDY; GENE LOCATION; GENE MUTATION; HISTOPATHOLOGY; IN VIVO STUDY; MALE; MITOCHONDRION; MOUSE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE STRENGTH; MUSCLE WEAKNESS; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SARCOMERE; SKELETAL MUSCLE; WILD TYPE;

EID: 79959246454     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.1016/j.ajpath.2011.01.054     Document Type: Article

References (40)

1. Shpetner HS, Vallee RB: Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules. Cell 1989, 59:421-432 (Pubitemid 19284457)
2. Unsworth KE, Mazurkiewicz P, Senf F, Zettl M, McNiven M, Way M, Holden DW: Dynamin is required for F-actin assembly and pedestal formation by enteropathogenic Escherichia coli (EPEC). Cell Microbiol 2007, 9:438-449 (Pubitemid 46092170)
3. Jones SM, Howell KE, Henley JR, Cao H, McNiven MA: Role of dynamin in the formation of transport vesicles from the trans-Golgi network. Science 1998, 279:573-577 (Pubitemid 28067288)
4. van der Bliek AM, Meyerowitz EM: Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. Nature 1991, 351:411-414
5. Takei K, McPherson PS, Schmid SL, De Camilli P: Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals. Nature 1995, 374:186-190
6. Roux A, Uyhazi K, Frost A, De Camilli P: GTP-dependent twisting of dynamin implicates constriction and tension in membrane fission. Nature 2006, 441:528-531 (Pubitemid 44050156)
7. Pucadyil TJ, Schmid SL: Real-time visualization of dynamin-catalyzed membrane fission and vesicle release. Cell 2008, 135:1263-1275
8. Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P: Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005, 37:1207-1209 (Pubitemid 41568701)
9. Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM: Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005, 37:289-294 (Pubitemid 41716256)
10. Jungbluth H, Wallgren-Pettersson C, Laporte J: Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 2008, 3:26
11. Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P: Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol 2007, 62:666-670
12. Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N: A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996, 13:175-182 (Pubitemid 26000437)
13. Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J: Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007, 39:1134-1139 (Pubitemid 47340645)
14. Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bonnemann C, Muntoni F: Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2007, 17:338-345 (Pubitemid 46546523)
15. Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Muller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H: RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010, 68:717-726
16. Tosch V, Rohde HM, Tronchere H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J: A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet 2006, 15:3098-3106
17. Louboutin JP, Wang L, Wilson JM: Gene transfer into skeletal muscle using novel AAV serotypes. J Gene Med 2005, 7:442-451 (Pubitemid 40553125)
18. Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, Mandel JL: The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A 2002, 99:15060-15065 (Pubitemid 35334609)
19. Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A: T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A 2009, 106:18763-18768
20. Vignaud A, Cebrian J, Martelly I, Caruelle JP, Ferry A: Effect of anti-inflammatory and antioxidant drugs on the long-term repair of severely injured mouse skeletal muscle. Exp Physiol 2005, 90:487-495 (Pubitemid 40980149)
21. Vignaud A, Hourde C, Medja F, Agbulut O, Butler-Browne G, Ferry A: Impaired skeletal muscle repair after ischemia-reperfusion injury in mice. J Biomed Biotechnol 2010, 2010:724914
22. Cook TA, Urrutia R, McNiven MA: Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. Proc Natl Acad Sci U S A 1994, 91:644-648 (Pubitemid 24041458)
23. Diatloff-Zito C, Gordon AJ, Duchaud E, Merlin G: Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family. Gene 1995, 163:301-306
24. Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, Garcia-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN: Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord 2010, 20:229-237
25. Romero NB: Centronuclear myopathies: a widening concept. Neuromuscul Disord 2010, 20:223-228
26. Ferguson SM, Raimondi A, Paradise S, Shen H, Mesaki K, Ferguson A, Destaing O, Ko G, Takasaki J, Cremona O, O'Toole E, De Camilli P: Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits. Dev Cell 2009, 17:811-822
27. Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Laine J, Romero NB, Guicheney P, Bitoun M: A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet 2010, 19:4820-4836
28. Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J: Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol 2010, 121:253-266
29. Zanoteli E, Vergani N, Campos Y, Vainzof M, Oliveira AS, d'Azzo A: Mitochondrial alterations in dynamin 2-related centronuclear myopathy, Arq Neuropsiquiatr 2009, 67:102-104
30. Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL: Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 2009, 5:e1000372
31. Lee E, Marcucci M, Daniell L, Pypaert M, Weisz OA, Ochoa GC, Farsad K, Wenk MR, De Camilli P: Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle. Science 2002, 297:1193-1196 (Pubitemid 36193356)
32. Razzaq A, Robinson IM, McMahon HT, Skepper JN, Su Y, Zelhof AC, Jackson AP, Gay NJ, O'Kane CJ: Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila. Genes Dev 2001, 15:2967-2979 (Pubitemid 33078947)
33. Wang L, Barylko B, Byers C, Ross JA, Jameson DM, Albanesi JP: Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. J Biol Chem 2010, 285:22753-22757
34. Kenniston JA, Lemmon MA: Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients. EMBO J 2010, 29:3054-3067
35. Gasper R, Meyer S, Gotthardt K, Sirajuddin M, Wittinghofer A: It takes two to tango: regulation of G proteins by dimerization. Nat Rev Mol Cell Biol 2009, 10:423-429
36. Chappie JS, Acharya S, Leonard M, Schmid SL, Dyda F: G domain dimerization controls dynamin's assembly-stimulated GTPase activity. Nature 2010, 465:435-440
37. Franzini-Armstrong C, Landmesser L, Pilar G: Size and shape of transverse tubule openings in frog twitch muscle fibers. J Cell Biol 1975, 64:493-497
38. Mears JA, Ray P, Hinshaw JE: A corkscrew model for dynamin constriction. Structure 2007, 15:1190-1202 (Pubitemid 47539167)
39. Rossi AE, Boncompagni S, Dirksen RT: Sarcoplasmic reticulum-mitochondrial symbiosis: bidirectional signaling in skeletal muscle. Exerc Sport Sci Rev 2009, 37:29-35
40. Durham WJ, Aracena-Parks P, Long C, Rossi AE, Goonasekera SA, Boncompagni S, Galvan DL, Gilman CP, Baker MR, Shirokova N, Protasi F, Dirksen R, Hamilton SL: RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell 2008, 133:53-65 (Pubitemid 351442994)