Distribution of Dystrophin and Dystrophin-Associated Protein 43DAG (β-dystroglycan) in the Central Nervous System of Normal Controls and Patients with Duchenne Muscular Dystrophy

Internal Medicine

Volumn 35, Issue 3, 1996, Pages 189-194

  Uchino, Makoto ^a   Hara, Akio ^a   Mizuno, Yuji ^b   Fujiki, Michihiro ^a   Nakamura, Tetsuji ^a   Tokunaga, Makoto ^a   Hirano, Teruyuki ^a   Yamashita, Taro ^a   Uyama, Ei Ichiro ^a   Ando, Yukio ^a   Mita, Shuji ^a   Ando, Masayuki ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Brain type dystrophin; Dystrophin associated protein; Immunoblotting; Immunostaining; Neuronal cells

Indexed keywords

CYTOSKELETON PROTEIN; DAG1 PROTEIN, HUMAN; DYSTROGLYCAN; DYSTROPHIN; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; BIOPSY; BRAIN; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MIDDLE AGED; MUSCULAR DYSTROPHY; NERVE CELL; PATHOLOGY; SKELETAL MUSCLE;

ADOLESCENT; ADULT; AGED; BIOPSY; BRAIN; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; DYSTROPHIN; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; NEURONS;

EID: 0030099377     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.35.189     Document Type: Article

References (43)

1. Hoffman EP, Knudson CM, Campbell KP, Kunkel LM. Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330: 754, 1987.
2. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51: 919, 1987.
3. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219, 1988.
4. Koenig M, Kunkel LM. Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem 265: 4560, 1990.
5. Arahata K, Ishiura S, Ishiguro T, et al. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 333: 861, 1988.
6. Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne'sor Becker's muscular dystrophy. N Engl J Med 318: 1363, 1988.
7. Sugita H, Arahata K, Ishiguro T, et al. Negative immunostaining of Duchenne muscular dystrophy (DMD) and mdx muscle surface membrane with antibody against synthetic peptide fragment predicted from DMD cDNA. Proc Jpn Acad 64: 37, 1988.
8. Watkins SC, Hoffman EP, Slayter HS, Kunkel LM. Immunoelectron microscopic localization of dystrophin in myofibres. Nature 333: 863, 1988.
9. Zubrzycka-Gaarn EE, Bulman DE, Karpati G, et al. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333: 466, 1988.
10. Campbell KP, Kahl SD. Association of dystrophin and an integral membrane glycoprotein. Nature 338: 259, 1989.
11. Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345: 315, 1990.
12. Ervasti JM, Kahl SD, Campbell KP. Purification of dystrophin from skeletal muscle. J Biol Chem 266: 9161, 1991.
13. Ervasti JM, Campbell KP. Membrane organization of the dystrophinglycoprotein complex. Cell 66: 1121, 1991.
14. Yamamoto H, Hagiwara Y, Mizuno Y, Yoshida M, Ozawa E. Heterogeneity of dystrophin-associated proteins. J Biochem 114: 132, 1993.
15. Yoshida M, Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 108: 748, 1990.
16. Love DR, Hill DF, Dickson G, et al. An autosomal transcript in skeletal muscle with homology to dystrophin. Nature 339: 55, 1989.
17. Love DR, Byth BC, Tinsley JM. Dystrophin and dystrophin-related proteins: a review of protein and RNA studies. Neuromusc Disord 3: 5, 1993.
18. Bar S, Barnea E, Levy Z, Neuman S, Yaffe D, Nudel U. A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem J 272: 557, 1988.
19. Lederfein D, Levy Z, Augier N, et al. A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc Natl Acad Sci USA 89: 5346, 1992.
20. Hugnot JP, Gilgenkrantz H, Vincent N, et al. Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Proc Natl Acad Sci USA 89: 7506, 1992.
21. Blake DJ, Love DR, Tinsley JM, et al. Characterization of a 4.8 kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Hum Mol Genet 1: 103, 1992.
22. Tinsley JM, Blake DJ, Davies KE. Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site. Hum Mol Genet 2: 521, 1993.
23. Byers TJ, Lidov HGW, Kunkel LM. An alternative dystrophin transcript specific to peripheral nerve. Nature Genet 4: 77, 1993.
24. Yoshida M, Suzuki A, Yamamoto H, Noguchi S, Mizuno Y, Ozawa E. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl-β-D-glucoside. Eur J Biochem 222: 1055, 1994.
25. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355: 696, 1992.
26. Suzuki A, Yoshida M, Hayashi K, Mizuno Y, Hagiwara Y, Ozawa E. Molecular organization at the glycoprotein-complex-binding site of dystrophin. Eur J Biochem 220: 283, 1994.
27. Ohlendieck K, Matsumura K, Ionasescu VV, et al. Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 43: 795, 1993.
28. Yoshida M, Mizuno Y, Nonaka I, Ozawa E. A dystrophin-associated glycoprotein, A3a (one of 43DAG doublets), is retained in Duchenne muscular dystrophy muscle. J Biochem 114: 634, 1993.
29. Mizuno Y, Yoshida M, Nonaka I, Hirai S, Ozawa E. Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy. Muscle Nerve 17: 206, 1994.
30. Uchino M, Teramoto H, Naoe H, Miike T, Yoshioka K, Ando M. Dystrophin and dystrophin-related protein in the central nervous system of normal controls and Duchenne muscular dystrophy. Acta Neuropathol 87: 129, 1994.
31. Uchino M, Yoshioka K, Miike T, et al. Dystrophin and dystrophin-related protein in the brains of normal and mdx mice. Muscle Nerve 17: 533, 1994.
32. Mizuno Y, Yoshida M, Yamamoto H, Hirai S, Ozawa E. Distribution of dystrophin isoforms and dystrophin-associated proteins 43DAG (A3a) and 50DAG (A2) in various monkey tissues. J Biochem 114: 936, 1993.
33. Jung D, Pons F, Leger JJ, Aunis D, Rendon A. Dystrophin in central nervous system: a developmental, regional distribution and subcellular localization study. Neurosci Lett 124: 87, 1991.
34. Lidov HGW, Byers TJ, Watkins SC, Kunkel LM. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 348: 725, 1990.
35. Uchino M, Teramoto H, Naoe H, Yoshioka K, Miike T, Ando M. Localization and characterization of dystrophin in the central nervous system of normal controls and Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry 57: 426, 1994.
36. Allen JE, Rodgin DW. Mental retardation in association with progressive muscular dystrophy. Am J Dis Child 100: 208, 1960.
37. Dubowitz V. Intellectual impairment in muscular dystrophy. Arch Dis Child 40: 296, 1965.
38. Marsh GG, Munsat TL. Evidence for early impairment of verbal intelligence in Duchenne muscular dystrophy. Arch Dis Child 49: 118, 1974.
39. Prosser EJ, Murphy EJ, Thompson MW. Intelligence and the gene for Duchenne muscular dystrophy. Arch Dis Child 44: 221, 1969.
40. Worden DK, Vignos PJ. Intellectual function in childhood progressive muscular dystrophy. Pediatrics 29: 968, 1962.
41. Zellweger H, Hanson JW. Psychometric studies in muscular dystrophy type IIIa (Duchenne). Dev Med Child Neurol 9: 576, 1968.
42. Zellweger H, Niedermeyer E. Central nervous system manifestation in childhood muscular dystrophy. Ann Paediatr 205: 25, 1965.
43. Pillers DM, Bulman DE, Weleber RG, et al. Dystrophin expression in the human retina is required for normal function as defined by electroretinography. Nature Genet 4: 82, 1993.