Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

Muscle and Nerve

Volumn 41, Issue 2, 2010, Pages 166-173

  Klinge, Lars ^a   Harris, John ^a   Sewry, Caroline ^b   Charlton, Richard ^a   Anderson, Louise ^a   Laval, Steve ^a   Chiu, Yen Hui ^a   Hornsey, Mark ^a   Straub, Volker ^a   Barresi, Rita ^a   Lochmüller, Hanns ^a   Bushby, Kate ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

Author keywords

Dysferlin; Muscular dystrophy; Regeneration; Skeletal muscle; T tubule system

Indexed keywords

CAVEOLIN 3; DYSFERLIN;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CELL LABELING; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ELECTRON MICROSCOPY; FEMALE; HUMAN; HUMAN TISSUE; MUSCLE DEVELOPMENT; MUSCLE MALFORMATION; MUSCLE REGENERATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RAT; SKELETON; STRUCTURE ANALYSIS; TRANSVERSE TUBULAR SYSTEM;

ANIMALS; BIOPSY; CYTOPLASM; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; RATS; RATS, WISTAR; REGENERATION; SARCOLEMMA;

EID: 76649107047     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21166     Document Type: Article

References (47)

1. Ampong BN, Imamura M, Matsumiya T, Yoshida M, Takeda S. Intracellular localization of dysferlin and its association with the dihydropyridine receptor. Acta Myol 2005;24:134 -144.
2. Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999;8:855- 861.
3. Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, et al. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 2000;10:553-559.
4. Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003;423:168 -172.
5. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998; 20:37- 42.
6. Bernatchez PN, Acevedo L, Fernandez-Hernando C, Murata T, Chalouni C, Kim J, et al. Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. J Biol Chem 2007;282:30745-30753.
7. Carozzi AJ, Ikonen E, Lindsay MR, Parton RG. Role of cholesterol in developing T-tubules: analogous mechanisms for T-tubule and caveolae biogenesis. Traffic 2000;1:326 -341.
8. Charlton R, Walsh J, Davison K, Laval S, Straub V, Bushby K, Anderson LV. Altered protein localization during muscle regeneration in humans and rats. Neuromuscul Disord 2005;15:698.
9. de Luna N, Gallardo E, Soriano M, Dominguez-Perles R, de la Torre C, Rojas-Garcia R, et al. Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro." J Biol Chem 2006; 281:17092-17098.
10. Dixon RW, Harris JB. Myotoxic activity of the toxic phospholipase, notexin, from the venom of the Australian tiger snake. J Neuropathol Exp Neurol 1996;55:1230 -1237.
11. Doherty KR, McNally EM. Repairing the tears: dysferlin in muscle membrane repair. Trends Mol Med 2003;9:327-330.
12. Doherty KR, Cave A, Davis DB, Delmonte AJ, Posey A, Earley JU, et al. Normal myoblast fusion requires myoferlin. Development 2005;132: 5565-5575.
13. Engel AG, Franzini-Armstrong C. Myology. New York: McGraw-Hill; 2004.
14. Franzini-Armstrong C. Simultaneous maturation of transverse tubules and sarcoplasmic reticulum during muscle differentiation in the mouse. Dev Biol 1991;146:353-363.
15. Galbiati F, Engelman JA, Volonte D, Zhang XL, Minetti C, Li M, et al. Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities. J Biol Chem 2001;276:21425-21433.
16. Han R, Bansal D, Miyake K, Muniz VP, Weiss RM, McNeil PL, et al. Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury. J Clin Invest 2007;117:1805-1813.
17. Harris JB, Johnson MA. Further observations on the pathological responses of rat skeletal muscle to toxins isolated from the venom of the Australian tiger snake, Notechis scutatus scutatus. Clin Exp Pharmacol Physiol 1978;5:587- 600.
18. Hattori H, Nagata E, Oya Y, Takahashi T, Aoki M, Ito D, Suzuki N. A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. Eur J Neurol 2007;14:1288 -1291.
19. Hernandez-Deviez DJ, Howes MT, Laval SH, Bushby K, Hancock JF, Parton RG. Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem 2008;283:6476-6488.
20. Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LV, et al. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J 2006.
21. Huang Y, de Morree A, van Remoortere A, Bushby K, Frants RR, den Dunnen J, et al. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet (to appear).
22. Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001;49: 130-134.
23. Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, et al. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J 2007;21:1768 -1776.
24. Krause T, Gerbershagen MU, Fiege M, Weisshorn R, Wappler F. Dantrolene-a review of its pharmacology, therapeutic use and new developments. Anaesthesia 2004;59:364 -373.
25. Lamb GD. Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. Muscle Nerve 2005;31:652- 658.
26. Lee E, Marcucci M, Daniell L, Pypaert M, Weisz OA, Ochoa GC, et al. Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle. Science 2002;297:1193-1196.
27. Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 2003;278:50466-50473.
28. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-36.
29. Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18:34-44.
30. Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001;10:1761-1766.
31. Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, et al. Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. J Neuropathol Exp Neurol 2005;64:334 -340.
32. Miike T, Nonaka I, Ohtani Y, Tamari H, Ishitsu T. Behavior of sarcotubular system formation in experimentally induced regeneration of muscle fibers. J Neurol Sci 1984;65:193-200.
33. Miike T, Ohtani Y, Tamari H, Ishitsu T, Nonaka I. An electron microscopical study of the T-system in biopsied muscles from Fukuyama type congenital muscular dystrophy. Muscle Nerve 1984;7:629-635.
34. Miner JH, Patton BL, Lentz SI, Gilbert DJ, Snider WD, Jenkins NA, et al. The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform. J Cell Biol 1997;137:685-701.
35. Muller AJ, Baker JF, DuHadaway JB, Ge K, Farmer G, Donover PS, et al. 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 2003;23:4295- 4306.
36. Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, et al. Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol 2008;172:774 -785.
37. Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007;39:1134 -1139.
38. Parton RG, Way M, Zorzi N, Stang E. Caveolin-3 associates with developing T-tubules during muscle differentiation. J Cell Biol 1997;136: 137-154.
39. Piccolo F, Moore SA, Ford GC, Campbell KP. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb - girdle muscular dystrophies. Ann Neurol 2000;48:902-912.
40. Ralston E, Ploug T. Caveolin-3 is associated with the T-tubules of mature skeletal muscle fibers. Exp Cell Res 1999;246:510 -515.
41. 2+-binding domain. J Biol Chem 1998;273:15879-15882.
42. Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, et al. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 2006;127:277-289.
43. Selcen D, Stilling G, Engel AG. The earliest pathologic alterations in dysferlinopathy. Neurology 2001;56:1472-1481.
44. Takekura H, Fujinami N, Nishizawa T, Ogasawara H, Kasuga N. Eccentric exercise-induced morphological changes in the membrane systems involved in excitation- contraction coupling in rat skeletal muscle. J Physiol 2001;533:571-583.
45. Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006;129:8 -17.
46. von der Hagen M, Laval SH, Cree LM, Haldane F, Pocock M, Wappler I, et al. The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. Neuromuscul Disord 2005;15:863- 877.
47. Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology 2004;62:538 -543.