Subsarcolemmal expression of utrophin in neuromuscular disorders: An immunohistochemical study of 80 cases

Acta Neuropathologica

Volumn 96, Issue 5, 1998, Pages 481-486

  Teijeira, Susana ^a   Teijeiro, Alfonso ^a   Fernéndez, Roberto ^a   Navarro, Carmen ^a  

^a HOSPITAL DO MEIXOEIRO   (Spain)

Author keywords

Dystrophin related protein; Muscular dystrophies; Utrophin

Indexed keywords

DYSTROPHIN; SPECTRIN; UTROPHIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SARCOLEMMA;

ADOLESCENT; ADULT; CARRIER STATE; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLES; MUSCULAR DYSTROPHIES; NEUROMUSCULAR DISEASES; REFERENCE VALUES; SARCOLEMMA; UTROPHIN;

EID: 0031708978     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050922     Document Type: Article

References (35)

1. Blake DJ, Love DR, Tinsley J, Morris GE, Turley H, Gatter K, Dickson G, Edwards YH, Davies KE (1992) Characterization of a 4.8 kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Hum Mol Genet 1: 103-109
2. Blake DJ, Tinsley JM, Davies KE (1996) Utrophin: a structural and functional comparison to dystrophin. Brain Pathol 6: 37-47
3. Buckle VJ, Guenet JL, Simon-Chazottes D, Love DR, Davies KE (1990) Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus. Hum Genet 85: 324-326
4. Campanelli JT, Roberds SL, Campbell KP, Scheller RH (1994) A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AchR clustering. Cell 77: 663-674
5. Clerk A, Morris GE, Dubowitz V, Davies KE, Sewry CA (1993) Dystrophin-related protein, utrophin, in normal and dystrophic human fetal skeletal muscle. Histochem J 25: 554-561
6. Collins AF, Pearson HA, Giardina P, McDonagh KT, Brusilow SW, Dover GJ (1995) Oral sodium phenylbutyrate therapy in homozygous β thalassemia: a clinical trial. Blood 85: 43-49
7. Dubowitz V (1985) Muscle biopsy: a practical approach, 2nd edn. Baillière Tindall, London, pp 19-40
8. Dubowitz V (1997) Utrophin euphoria. Neuromusc Disord 7: 5-6
9. Helliwell TR, Nguyen Thi Man, Morris GE, Davies KE (1992) The dystrophin-related protein, utrophin, is expressed on the sarcolemma of regenerating human skeletal muscle fibers in dystrophies and inflammatory myopathies. Neuromusc Disord 2: 177-184
10. Hoffman EP, Beggs AH, Koening M, Kunkel LM, Angelini C (1989) Cross-reactive protein in Duchenne muscle. Lancet 18: 1211-1212
11. Hoffman EP, Garcia CA, Chamberlain JS, Angelini C, Lupski JR, Fenwick R (1991) Is the carboxyl terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann Neurol 30: 605-610
12. Karpati G (1997) Utrophin muscles in on the action. Nat Med 3: 22-23
13. Karpati G, Carpenter S, Morris GE, Davies KE, Guerin C, Holland P (1993) Localization and quantitation of the chromosome 6-encoded dystrophin-related protein in normal and pathological human muscle. J Neuropathol Exp Neurol 52: 119-128
14. Khurana TS, Hoffman EP, Kunkel LM (1990) Identification of a chromosome 6-encoded dystrophin-related protein. J Biol Chem 265: 16717-16720
15. Khurana TS, Watkins SC, Chatey P, Chelly J, Tomé FMS, Fardeau M, Kaplan JC, Kunkel LM (1991) Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromusc Disord 1: 185-194
16. Khurana TS, Kunkel LM, Frederickson AD, Carbonetto S, Watkins SC (1995) Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix. J Cell Sci 108: 173-185
17. Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680-685
18. Love DR, Hill DF, Dickson G, Spurr NK, Byth BC, Marsden RF, Walsh FS, Edwards YH, Davies KE (1989) An autosomal transcript in skeletal muscle with homology to dystrophin. Nature 339: 55-58
19. Matsumura K, Ervasti JM, Ohlendieck K, Kahl SD, Campbell KP (1992) Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature 360: 588-591
20. Mizuno Y, Yoshida M, Nonaka I, Hirai S, Ozawa E (1994) Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy. Muscle Nerve 17: 206-216
21. Nguyen thi Man, Ellis JM, Love DR, Davies KE, Gatter KC, Dickson G, Morris GE (1991) Localization of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles, and proliferating brain cell lines. J Cell Biol 115: 1695-1700
22. Pegoraro E, Schimke RN, Garcia C, Stern H, Cadaldini M, Angelini C, Barhosa E, Carroll J, Marks WA, Neville HE, Marks H, Appleton S, Toriello H, Wessel HB, Donnelly J, Bernes SM, Taber JW, Weiss L, Hoffman EP (1995) Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology 45: 677-690
23. Pons F, Nicholson LVB, Robert A, Voit T, Leger JJ (1993) Dystrophin and dystrophin-related protein (utrophin) distribution in normal and dystrophin-deficient skeletal muscles. Neuromusc Disord 3: 507-514
24. Rigoletto C, Prelle A, Ciscato P, Moggio M, Comi G, Fortunato F, Scarlato G (1995) Utrophin expression during human fetal development. Int J Dev Neurosci 13: 585-593
25. Sewry CA, Clerk A, Heckmatt JZ, Vyse T, Dubowitz V, Strong PN (1991) Dystrophin abnormalities in polymyositis and dermatomyositis. Neuromusc Disord 1: 333-339
26. Sewry CA, Matsumura K, Cambell KP, Dubowitz V (1994) Expression of dystrophin-associated glycoproteins and utrophin in carriers of Duchenne muscular dystrophy. Neuromusc Disord 4: 401-409
27. Takemitsu M, Ishiura S, Koga R, Kamakura K, Arahata K, Nonaka I, Sugita H (1991) Dystrophin-related protein in the fetal and denervated skeletal muscles of normal and mdx mice. Biochem Biophys Res Commun 180: 1179-1186
28. Takemitsu M, Nonaka I, Sugita H (1993) Dystrophin-related protein in skeletal muscles in neuromuscular disorders: immunohistochemical study. Acta Neuropathol 85: 256-259
29. Tanaka H, Ishiguro T, Eguchi C, Saito K, Ozawa E (1991) Expression of a dystrophin-related protein associated with the skeletal muscle cell membrane. Histochemistry 96: 1-5
30. Tinsley JM, Blake DJ, Roche A, Fairbrother U, Riss J, Byth BC, Knicht AE, Kendrick-Jones J, Suthers GK, Love DR, Edwards YH, Davies KE (1992) Primary structure of dystrophin-relaled protein. Nature 360: 591-593
31. Tinsley JM, Davies KE (1993) Utrophin: a potential replacement for dystrophin? Neuromusc Disord 3: 537-539
32. Tinsley JM, Potter AC, Phelps SR, Fisher R, Trickett JI, Davies KE (1996) Amelioration of the dystrophic phenotype ot mdx mice using a truncated utrophin transgene. Nature 384: 349-353
33. Tomé FMS, Matsumura K, Chevallay M, Campbell KP, Fardeau M (1994) Expression of dystrophin-associated glycoproteins during human fetal muscle development: a preliminary immunocytochemical study. Neuromusc Disord 4: 343-348
34. Towbin H, Staehelin T, Gordon J (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci USA 76: 4350-4354
35. Voit T, Haas K, Léger JOC, Pons F, Léger JJ (1991) Xp21 dystrophin and 6q dystrophin-related protein. Comparative immunolocalization using multiple antibodies. Am J Pathol 139: 969-976