Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

Acta Neuropathologica

Volumn 121, Issue 2, 2011, Pages 253-266

  Toussaint, Anne ^a,b,c,d,e   Cowling, Belinda Simone ^a,b,c,d,e   Hnia, Karim ^a,b,c,d,e   Mohr, Michel ^f   Oldfors, Anders ^g   Schwab, Yannick ^a,b,c   Yis, Uluc ^h   Maisonobe, Thierry ⁱ   Stojkovic, Tanya ⁱ   Wallgren Pettersson, Carina ^j,k   Laugel, Vincent ^f   Echaniz Laguna, Andoni ^l   Mandel, Jean Louis ^a,b,c,d,e   Nishino, Ichizo ^m   Laporte, Jocelyn ^a,b,c,d,e  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e l'alimentation et l'Environnement   (France)

^f HÔPITAL DE HAUTEPIERRE   (France)

^g UNIVERSITY OF GOTHENBURG   (Sweden)

^h Gaziantep Children's Hospital   (Turkey)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j UNIVERSITY OF HELSINKI   (Finland)

^k FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^l HÔPITAL CIVIL   (France)

^m NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

more..

Author keywords

Amphiphysin; Centronuclear myopathy; Congenital myopathy; Dynamin; Myotubular myopathy; Myotubularin; T tubule; Triad

Indexed keywords

AMPHIPHYSIN; AMPHIPHYSIN 2; DYNAMIN II; MUSCLE PROTEIN; MYOTUBULARIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY; AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY; BIN1 GENE; CENTRONUCLEAR MYOPATHY; CHILD; CONTROLLED STUDY; DISEASE CLASSIFICATION; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC REGULATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; RNA SPLICING; SCHOOL CHILD; SKELETAL MUSCLE; ULTRASTRUCTURE; X LINKED MYOTUBULAR MYOPATHY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; BRAIN; CHILD; DYNAMIN II; FEMALE; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NUCLEAR PROTEINS; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 79451471885     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-010-0754-2     Document Type: Article

References (49)

1. L Al-Qusairi N Weiss A Toussaint, et al. 2009 T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase Proc Natl Acad Sci USA 106 18763 18768 1:CAS:528:DC%2BD1MXhsVKmtL3I 10.1073/pnas.0900705106 19846786
2. JA Bevilacqua M Bitoun V Biancalana, et al. 2009 "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy Acta Neuropathol 117 283 291 10.1007/s00401-008-0472-1 19084976
3. M Bitoun JA Bevilacqua B Prudhon, et al. 2007 Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset Ann Neurol 62 666 670 1:CAS:528:DC%2BD1cXhsVCru7o%3D 10.1002/ana.21235 17932957
4. M Bitoun S Maugenre PY Jeannet, et al. 2005 Mutations in dynamin 2 cause dominant centronuclear myopathy Nat Genet 37 1207 1209 1:CAS:528: DC%2BD2MXhtFGhsL3E 10.1038/ng1657 16227997
5. F Blondeau J Laporte S Bodin G Superti-Furga B Payrastre JL Mandel 2000 Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway Hum Mol Genet 9 2223 2229 1:CAS:528:DC%2BD3cXnt1yntL8%3D 11001925
6. A Buj-Bello V Laugel N Messaddeq, et al. 2002 The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice Proc Natl Acad Sci USA 99 15060 15065 1:CAS:528:DC%2BD38Xpt1yrurc%3D 10.1073/pnas.212498399 12391329
7. MH Butler C David GC Ochoa, et al. 1997 Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of Ranvier in brain and around T tubules in skeletal muscle J Cell Biol 137 1355 1367 1:CAS:528:DyaK2sXjvFylsLk%3D 10.1083/jcb.137.6.1355 9182667
8. Carson FL (1997) Histotechnology. ASCP press, Chicago
9. KG Claeys T Maisonobe J Bohm, et al. 2010 Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation Neurology 74 519 521 1:STN:280:DC%2BC3c%2FpsFemsQ%3D%3D 10.1212/WNL.0b013e3181cef7f9 20142620
10. V Denic JS Weissman 2007 A molecular caliper mechanism for determining very long-chain fatty acid length Cell 130 663 677 1:CAS:528: DC%2BD2sXhtVels7%2FI 10.1016/j.cell.2007.06.031 17719544
11. JJ Dowling AP Vreede SE Low, et al. 2009 Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy PLoS Genet 5 e1000372 10.1371/journal.pgen.1000372 19197364
12. K Elliott D Sakamuro A Basu, et al. 1999 Bin1 functionally interacts with Myc and inhibits cell proliferation via multiple mechanisms Oncogene 18 3564 3573 1:CAS:528:DyaK1MXktlCktL4%3D 10.1038/sj.onc.1202670 10380878
13. Engel AG, Franzini-Armstrong C (2004) Myology, basic and clinical. McGraw-Hill, New York
14. P Fernando JS Sandoz W Ding, et al. 2009 Bin1 SRC homology 3 domain acts as a scaffold for myofiber sarcomere assembly J Biol Chem 284 27674 27686 1:CAS:528:DC%2BD1MXhtFyjs7zF 10.1074/jbc.M109.029538 19633357
15. BE Flucher SB Andrews MP Daniels 1994 Molecular organization of transverse tubule/sarcoplasmic reticulum junctions during development of excitation-contraction coupling in skeletal muscle Mol Biol Cell 5 1105 1118 1:CAS:528:DyaK2MXhvV2isL0%3D 7865878
16. A Frost VM Unger P De Camilli 2009 The BAR domain superfamily: membrane-molding macromolecules Cell 137 191 196 1:CAS:528:DC%2BD1MXmvVaiurg%3D 10.1016/j.cell.2009.04.010 19379681
17. TT Hong JW Smyth D Gao, et al. 2010 BIN1 localizes the L-type calcium channel to cardiac T-tubules PLoS Biol 8 e1000312 10.1371/journal.pbio.1000312 20169111
18. PY Jeannet G Bassez B Eymard, et al. 2004 Clinical and histologic findings in autosomal centronuclear myopathy Neurology 62 1484 1490 15136669
19. MA Johnson J Polgar D Weightman D Appleton 1973 Data on the distribution of fibre types in thirty-six human muscles. An autopsy study J Neurol Sci 18 111 129 1:STN:280:DyaE3s7jsVKqsA%3D%3D 10.1016/0022-510X(73)90023-3 4120482
20. H Jungbluth C Wallgren-Pettersson J Laporte 2008 Centronuclear (myotubular) myopathy Orphanet J Rare Dis 3 26 10.1186/1750-1172-3-26 18817572
21. C Kojima A Hashimoto I Yabuta, et al. 2004 Regulation of Bin1 SH3 domain binding by phosphoinositides EMBO J 23 4413 4422 1:CAS:528:DC%2BD2cXpsFahtbg%3D 10.1038/sj.emboj.7600442 15483625
22. J Laporte V Biancalana SM Tanner, et al. 2000 MTM1 mutations in X-linked myotubular myopathy Hum Mutat 15 393 409 1:CAS:528:DC%2BD3cXjtlylsLc%3D 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R 10790201
23. J Laporte LJ Hu C Kretz, et al. 1996 A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast Nat Genet 13 175 182 1:CAS:528:DyaK28XktlOhtbY%3D 10.1038/ng0696-175 8640223
24. E Lee M Marcucci L Daniell, et al. 2002 Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle Science 297 1193 1196 1:CAS:528:DC%2BD38XmsVOhtbc%3D 10.1126/science.1071362 12183633
25. C Leprince F Romero D Cussac, et al. 1997 A new member of the amphiphysin family connecting endocytosis and signal transduction pathways J Biol Chem 272 15101 15105 1:CAS:528:DyaK2sXjvFOntr0%3D 10.1074/jbc.272.24.15101 9182529
26. Luna LG (1992) Histopathological methods and color atlas of special stains and tissue artifacts. Johnson Printers, Downers Grove
27. HT McMahon JL Gallop 2005 Membrane curvature and mechanisms of dynamic cell membrane remodelling Nature 438 590 596 1:CAS:528:DC%2BD2MXht1Gqs73N 10.1038/nature04396 16319878
28. AJ Muller JF Baker JB DuHadaway, et al. 2003 Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation Mol Cell Biol 23 4295 4306 1:CAS:528:DC%2BD3sXks1yku7g%3D 10.1128/MCB.23.12.4295-4306.2003 12773571
29. AJ Muller JB DuHadaway PS Donover E Sutanto-Ward GC Prendergast 2004 Targeted deletion of the suppressor gene bin1/amphiphysin2 accentuates the neoplastic character of transformed mouse fibroblasts Cancer Biol Ther 3 1236 1242 1:CAS:528:DC%2BD2MXjvVyntrc%3D 10.4161/cbt.3.12.1232 15611650
30. AS Nicot J Laporte 2008 Endosomal phosphoinositides and human diseases Traffic 9 1240 1249 1:CAS:528:DC%2BD1cXpslWht7c%3D 10.1111/j.1600-0854.2008. 00754.x 18429927
31. AS Nicot A Toussaint V Tosch, et al. 2007 Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy Nat Genet 39 1134 1139 1:CAS:528:DC%2BD2sXps12gtLo%3D 10.1038/ng2086 17676042
32. K North 2008 What's new in congenital myopathies? Neuromuscul Disord 18 433 442 10.1016/j.nmd.2008.04.002 18482838
33. M Pelé L Tiret JL Kessler S Blot JJ Panthier 2005 SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs Hum Mol Genet 14 1417 1427 10.1093/hmg/ddi151 15829503
34. CR Pierson K Tomczak P Agrawal B Moghadaszadeh AH Beggs 2005 X-linked myotubular and centronuclear myopathies J Neuropathol Exp Neurol 64 555 564 1:CAS:528:DC%2BD2MXnvVajs7o%3D 16042307
35. GCMAJ Prendergast A Ramalingam MY Chang 2009 Bar the door: cancer suppression by amphiphysin-like genes Biochem Biophys Acta 1795 25 36 1:CAS:528:DC%2BD1MXhsVyisw%3D%3D 18930786
36. AR Ramjaun PS McPherson 1998 Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites J Neurochem 70 2369 2376 1:CAS:528:DyaK1cXjsVeqt7g%3D 10.1046/j.1471-4159.1998.70062369.x 9603201
37. A Razzaq IM Robinson HT McMahon, et al. 2001 Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila Genes Dev 15 2967 2979 1:CAS:528:DC%2BD3MXovVOrur4%3D 10.1101/gad.207801 11711432
38. G Ren P Vajjhala JS Lee B Winsor AL Munn 2006 The BAR domain proteins: molding membranes in fission, fusion, and phagy Microbiol Mol Biol Rev 70 37 120 1:CAS:528:DC%2BD28Xjs1Sgsrg%3D 10.1128/MMBR.70.1.37-120.2006 16524918
39. GA Rezniczek P Konieczny B Nikolic, et al. 2007 Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan J Cell Biol 176 965 977 1:CAS:528:DC%2BD2sXjvVSnsb0%3D 10.1083/jcb.200604179 17389230
40. NB Romero 2010 Centronuclear myopathies: a widening concept Neuromuscul Disord 20 223 228 10.1016/j.nmd.2010.01.014 20181480
41. D Sakamuro KJ Elliott R Wechsler-Reya GC Prendergast 1996 BIN1 is a novel MYC-interacting protein with features of a tumour suppressor Nat Genet 14 69 77 1:CAS:528:DyaK28Xls1Squr4%3D 10.1038/ng0996-69 8782822
42. HS Shpetner RB Vallee 1989 Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules Cell 59 421 432 1:CAS:528:DyaK3cXhvVSlsg%3D%3D 10.1016/0092-8674(89)90027-5 2529977
43. GS Taylor T Maehama JE Dixon 2000 Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate Proc Natl Acad Sci USA 97 8910 8915 1:CAS:528:DC%2BD3cXls12ltbg%3D 10.1073/pnas.160255697 10900271
44. L Tiret S Blot JL Kessler H Gaillot M Breen JJ Panthier 2003 The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2 Hum Genet 113 297 306 1:CAS:528:DC%2BD3sXmsV2jtb4%3D 10.1007/s00439-003-0984-7 12884002
45. V Tosch N Vasli C Kretz, et al. 2010 Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations Neuromuscul Disord 20 375 381 10.1016/j.nmd.2010.03.015 20434914
46. H Tronchere J Laporte C Pendaries, et al. 2004 Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells J Biol Chem 279 7304 7312 1:CAS:528: DC%2BD2cXht1Cktrk%3D 10.1074/jbc.M311071200 14660569
47. TC Tsai H Horinouchi S Noguchi, et al. 2005 Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism Neuromuscul Disord 15 245 252 10.1016/j.nmd.2004.12.005 15725586
48. KE Unsworth P Mazurkiewicz F Senf, et al. 2007 Dynamin is required for F-actin assembly and pedestal formation by enteropathogenic Escherichia coli (EPEC) Cell Microbiol 9 438 449 1:CAS:528:DC%2BD2sXhslGqs7c%3D 10.1111/j.1462-5822.2006.00801.x 16965516
49. RJ Wechsler-Reya KJ Elliott GC Prendergast 1998 A role for the putative tumor suppressor Bin1 in muscle cell differentiation Mol Cell Biol 18 566 575 1:CAS:528:DyaK1cXjtFCrtQ%3D%3D 9418903