Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients

Acta Neuropathologica

Volumn 116, Issue 3, 2008, Pages 235-246

  Au, Carol G ^a   Butler, Tanya L ^a   Egan, Jonathan R ^a   Cooper, Sandra T ^a   Lo, Harriet P ^a   Compton, Alison G ^a   North, Kathryn N ^a   Winlaw, David S ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Aquaporin; Duchenne muscular dystrophy; Limb girdle muscular dystrophy; Syntrophin; Water channel

Indexed keywords

ALPHA 1 SYNTROPHIN; AQUAPORIN 1; AQUAPORIN 4; DYSTROPHIN; SYNTROPHIN;

ADOLESCENT; ADULT; ARTICLE; CELL CULTURE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B; MALE; MUSCLE BIOPSY; MUSCLE CAPILLARY; MUSCLE CELL; MYOTUBE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SARCOLEMMA; SKELETAL MUSCLE; UPREGULATION; WESTERN BLOTTING;

ADOLESCENT; ADULT; AQUAPORIN 1; AQUAPORIN 4; BLOTTING, WESTERN; CALCIUM-BINDING PROTEINS; CHILD; CHILD, PRESCHOOL; DOWN-REGULATION; DYSTROPHIN; FEMALE; GENE EXPRESSION; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUSCULAR DYSTROPHY, DUCHENNE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 49049114051     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-008-0369-z     Document Type: Article

References (50)

1. Adams ME, Mueller HA, Froehner SC (2001) In vivo requirement of the α-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4. J Cell Biol 155:113-122
2. Anderson JE, Ovalle WK, Bressler BH (1987) Electron microscopic and autoradiographic characterization of hindlimb muscle regeneration in the mdx mouse. Anat Rec 219:243-257
3. Antolic A, Harrison R, Farlinger C, Cermak NM, Peters SJ, Leblanc P, Roy BD (2007) Effect of extracellular osmolality on cell volume and resting metabolism in mammalian skeletal muscle. Am J Physiol Regul Integr Comp Physiol 292:R1994-R2000
4. Arning L, Jagiello P, Schara U, Vorgerd M, Dahmen N, Gencikova A, Mortier W, Epplen JT, Gencik M (2004) Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. J Neurol 251:72-78
5. Au CG, Cooper ST, Lo HP, Compton AG, Yang N, Wintour EM, North KN, Winlaw DS (2004) Expression of aquaporin 1 in human cardiac and skeletal muscle. J Mol Cell Cardiol 36:655-662
6. Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP (2003) Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423:168-172
7. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37-42
8. Blake DJ, Weir A, Newey SE, Davies KE (2002) Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 82:291-329
9. Butler TL, Au CG, Yang B, Egan JR, Tan YM, Hardeman EC, North KN, Verkman AS, Winlaw DS (2006) Cardiac aquaporin expression in humans, rats, and mice. Am J Physiol Heart Circ Physiol 291:H705-H713
10. Compton AG, Cooper ST, Hill PM, Yang N, Froehner SC, North KN (2005) The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. J Neuropathol Exp Neurol 64:350-361
11. Crosbie RH, Dovico SA, Flanagan JD, Chamberlain JS, Ownby CL, Campbell KP (2002) Characterization of aquaporin-4 in muscle and muscular dystrophy. FASEB J 16:943-949
12. Decary S, Mouly V, Hamida CB, Sautet A, Barbet JP, Butler-Browne GS (1997) Replicative potential and telomere length in human skeletal muscle: Implications for satellite cell-mediated gene therapy. Hum Gene Ther 8:1429-1438
13. Endo M, Jain RK, Witwer B, Brown D (1999) Water channel (aquaporin 1) expression and distribution in mammary carcinomas and glioblastomas. Microvasc Res 58:89-98
14. Frigeri A, Nicchia GP, Balena R, Nico B, Svelto M (2004) Aquaporins in skeletal muscle: Reassessment of the functional role of aquaporin-4. FASEB J 18:905-907
15. Frigeri A, Nicchia GP, Nico B, Quondamatteo F, Herken R, Roncali L, Svelto M (2001) Aquaporin-4 deficiency in skeletal muscle and brain of dystrophic mdx mice. FASEB J 15:90-98
16. Frigeri A, Nicchia GP, Repetto S, Bado M, Minetti C, Svelto M (2002) Altered aquaporin-4 expression in human muscular dystrophies: A common feature? FASEB J 16:1120-1122
17. Frigeri A, Nicchia GP, Verbavatz JM, Valenti G, Svelto M (1998) Expression of aquaporin-4 in fast-twitch fibers of mammalian skeletal muscle. J Clin Invest 102:695-703
18. Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, Kohane IS, Beggs AH, Kunkel LM (2002) Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci USA 99:15000-15005
19. Jerusalem F, Rakusa M, Engel AG, MacDonald RD (1974) Morphometric analysis of skeletal muscle capillary ultrastructure in inflammatory myopathies. J Neurol Sci 23:391-402
20. Jimi T, Wakayama Y, Inoue M, Kojima H, Oniki H, Matsuzaki Y, Shibuya S, Hara H, Takahashi J (2006) Aquaporin 1: Examination of its expression and localization in normal human skeletal muscle tissue. Cells Tissues Organs 184:181-187
21. Jimi T, Wakayama Y, Matsuzaki Y, Hara H, Inoue M, Shibuya S (2004) Reduced expression of aquaporin 4 in human muscles with amyotrophic lateral sclerosis and other neurogenic atrophies. Pathol Res Pract 200:203-209
22. Jimi T, Wakayama Y, Murahashi M, Shibuya S, Inoue M, Hara H, Matsuzaki Y, Uemura N (2000) Aquaporin 4: Lack of mRNA expression in the rat regenerating muscle fiber under denervation. Neurosci Lett 291:93-96
23. King LS, Kozono D, Agre P (2004) From structure to disease: The evolving tale of aquaporin biology. Nat Rev Mol Cell Biol 5:687-698
24. Leinonen H, Juntunen J, Somer H, Rapola J (1979) Capillary circulation and morphology in Duchenne muscular dystrophy. Eur Neurol 18:249-255
25. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31-36
26. Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, Macarthur DG, Yang N, Reardon K, North KN (2008) Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 18:34-44
27. Manley GT, Binder DK, Papadopoulos MC, Verkman AS (2004) New insights into water transport and edema in the central nervous system from phenotype analysis of aquaporin-4 null mice. Neuroscience 129:983-991
28. Matsuda C, Aoki M, Hayashi YK, Ho MF, Arahata K, Brown RH Jr (1999) Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 53:1119-1122
29. Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH Jr (2001) The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 10:1761-1766
30. Matsumura K, Nonaka I, Campbell KP (1993) Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 341:521-522
31. Menke A, Jockusch H (1991) Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse. Nature 349:69-71
32. Menke A, Jockusch H (1995) Extent of shock-induced membrane leakage in human and mouse myotubes depends on dystrophin. J Cell Sci 108(Pt 2):727-733
33. Neely JD, Amiry-Moghaddam M, Ottersen OP, Froehner SC, Agre P, Adams ME (2001) Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein. Proc Natl Acad Sci USA 98:14108-14113
34. Nielsen S, Smith BL, Christensen EI, Agre P (1993) Distribution of the aquaporin CHIP in secretory and resorptive epithelia and capillary endothelia. Proc Natl Acad Sci USA 90:7275-7279
35. Noguchi S, Tsukahara T, Fujita M, Kurokawa R, Tachikawa M, Toda T, Tsujimoto A, Arahata K, Nishino I (2003) cDNA microarray analysis of individual Duchenne muscular dystrophy patients. Hum Mol Genet 12:595-600
36. Piccolo F, Moore SA, Ford GC, Campbell KP (2000) Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 48:902-912
37. Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini M, Fortunato F, Zecca C, Gallanti A, Chiveri L, Bresolin N, Scarlato G, Moggio M (2003) Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. Acta Neuropathol (Berl) 105:537-542
38. Rapp G, Ashley CC, Bagni MA, Griffiths PJ, Cecchi G (1998) Volume changes of the myosin lattice resulting from repetitive stimulation of single muscle fibers. Biophys J 75:2984-2995
39. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passos-Bueno M, Zatz M, Tischfield JA, Fardeau M, Jackson CE, Cohen D, Beckmann JS (1995) Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81:27-40
40. Saadoun S, Papadopoulos MC, Davies DC, Bell BA, Krishna S (2002) Increased aquaporin 1 water channel expression in human brain tumours. Br J Cancer 87:621-623
41. Saadoun S, Papadopoulos MC, Hara-Chikuma M, Verkman AS (2005) Impairment of angiogenesis and cell migration by targeted aquaporin-1 gene disruption. Nature 434:786-792
42. Straino S, Germani A, Di Carlo A, Porcelli D, De Mori R, Mangoni A, Napolitano M, Martelli F, Biglioli P, Capogrossi MC (2004) Enhanced arteriogenesis and wound repair in dystrophin-deficient mdx mice. Circulation 110:3341-3348
43. Tenckhoff S, Hollborn M, Kohen L, Wolf S, Wiedemann P, Bringmann A (2005) Diversity of aquaporin mRNA expressed by rat and human retinas. Neuroreport 16:53-56
44. Trimarchi F, Favaloro A, Fulle S, Magaudda L, Puglielli C, Di Mauro D (2006) Culture of human skeletal muscle myoblasts: Timing appearance and localization of dystrophin-glycoprotein complex and vinculin-talin-integrin complex. Cells Tissues Organs 183:87-98
45. Vacca A, Frigeri A, Ribatti D, Nicchia GP, Nico B, Ria R, Svelto M, Dammacco F (2001) Microvessel overexpression of aquaporin 1 parallels bone marrow angiogenesis in patients with active multiple myeloma. Br J Haematol 113:415-421
46. Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M (2001) Dysferlin protein analysis in limb-girdle muscular dystrophies. J Mol Neurosci 17:71-80
47. Wakayama Y, Inoue M, Kojima H, Jimi T, Yamashita S, Kumagai T, Shibuya S, Hara H, Oniki H (2006) Altered alpha1-syntrophin expression in myofibers with Duchenne and Fukuyama muscular dystrophies. Histol Histopathol 21:23-34
48. Wakayama Y, Jimi T, Inoue M, Kojima H, Murahashi M, Kumagai T, Yamashita S, Hara H, Shibuya S (2002) Reduced aquaporin 4 expression in the muscle plasma membrane of patients with Duchenne muscular dystrophy. Arch Neurol 59:431-437
49. Wakayama Y, Jimi T, Inoue M, Kojima H, Yamashita S, Kumagai T, Murahashi M, Hara H, Shibuya S (2003) Altered aquaporin 4 expression in muscles of Fukuyama-type congenital muscular dystrophy. Virchows Arch 443:761-767
50. Yang B, Verbavatz J-M, Song Y, Vetrivel L, Manley G, Kao W-M, Ma T, Verkman AS (2000) Skeletal muscle function and water permeability in aquaporin-4 deficient mice. Am J Physiol Cell Physiol 278:C1108-C1115