The neurobiology of Duchenne muscular dystrophy: Learning lessons from muscle?

Trends in Neurosciences

Volumn 23, Issue 3, 2000, Pages 92-99

  Blake, Derek J ^a   Kro̊ger, Stephan ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b MAX PLANCK INSTITUTE FOR BRAIN RESEARCH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; GENE PRODUCT; NITRIC OXIDE;

BRAIN FUNCTION; COGNITIVE DEFECT; DUCHENNE MUSCULAR DYSTROPHY; GENETIC DISORDER; HUMAN; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MUSCULAR DYSTROPHY; NERVE CELL MEMBRANE; NEUROBIOLOGY; POSTSYNAPTIC MEMBRANE; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE;

ANIMALS; BRAIN; COGNITION DISORDERS; DYSTROPHIN; HUMANS; MICE; MULTIGENE FAMILY; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; NEURONS; NITRIC OXIDE; RETINA; SYNAPTIC MEMBRANES;

EID: 0034160119     PISSN: 01662236     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0166-2236(99)01510-6     Document Type: Review

References (64)

1. 2+ homeostasis in muscles of the mdx mouse, an animal model of the Duchenne muscular dystrophy: A review. Acta Physiol. Scand. 156, 397-406
2. Carlson, C.G. (1998) The dystrophinopathies: An alternative to the structural hypothesis. Neurobiol. Dis. 5, 3-15
3. Emery, A.E.H. (1993) Duchenne Muscular Dystrophy, Oxford University Press
4. Duchenne, G. (1868) Recherches sur la paralysie musculaire pseudohypertrophique, ou paralysie myosclerosique. Arch. Gen. Med. 11, 5-25
5. Ogasawara, A. (1989) Similarity of IQs of siblings with Duchenne progressive muscular dystrophy. Am. J. Ment. Retard. 93, 548-550
6. Whelan, T.B. (1987) Neuropsychological performance of children with Duchenne muscular dystrophy and spinal muscle atrophy. Dev. Med. Child Neurol. 29, 212-220
7. Ogasawara, A. (1989) Downward shift in IQ in persons with Duchenne muscular dystrophy compared to those with spinal muscular atrophy. Am. J. Ment. Retard. 93, 544-547
8. Billard, C. et al. (1992) Cognitive functions in Duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy. Neuromusc. Disord. 2, 371-378
9. Billard, C. et al. (1998) Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy. Dev. Med. Child Neurol 40, 12-20
10. North, K.N. et al. (1996) Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy. Neurology 46, 461-465
11. Yoshioka, M. et al. (1980) Central nervous system involvement in progressive muscular dystrophy. Arch. Dis. Child 55, 589-594
12. Jagadha, V. and Becker, L.E. (1988) Brain morphology in duchenne muscular dystrophy: A golgi study. Pediatr. Neurol. 4, 87-92
13. Cox, G.A. et al. (1993) New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin. Nat. Genet. 4, 87-93
14. Vaillend, C. et al. (1995) Influence of dystrophin-gene mutation on mdx mouse behavior. I. Retention deficits at long delays in spontaneous alternation and bar-pressing tasks. Behav. Genet. 25, 569-579
15. Sesay, A.K. et al. (1996) Spatial learning and hippocampal long-term potentiation are not impaired in mdx mice. Neurosci. Lett. 211, 207-210
16. 3cv mice lacking dystrophin gene products. Neuroscience 86, 53-66
17. Sadoulet-Puccio, H.M. and Kunkel, L.M. (1996) Dystrophin and its isoforms. Brain Pathol. 6, 25-35
18. Zubrzycka-Gaarn, E.E. et al. (1988) The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333, 466-469
19. Watkins, S.C. et al. (1988) Immunoelectron microscopic localization of dystrophin in myofibres. Nature 333, 863-866
20. Lidov, H.G. et al. (1990) Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 348, 725-728
21. Campbell, K.P. (1995) Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage. Cell 80, 675-679
22. Ozawa, E. et al. (1995) Dystrophin-associated proteins in muscular dystrophy. Hum. Mol. Genet. 4, 1711-1716
23. Petrof, B.J. et al. (1993) Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc. Natl. Acad. Sci. U. S. A. 90, 3710-3714
24. Ervasti, J.M. et al. (1990) Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345, 315-319
25. Lim, L.E. and Campbell, K.P. (1998) The sarcoglycan complex in limb-girdle muscular dystrophy. Curr. Opin. Neurol. 11, 443-452
26. Duclos, F. et al. (1998) Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J. Cell Biol. 142, 1461-1471
27. Araishi, K. et al. (1999) Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. Hum. Mol. Genet. 8, 1589-1598
28. Hack, A.A. et al. (1998) Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin. J. Cell Biol. 142, 1279-1287
29. Hemler, M.E. (1999) Dystroglycan versatility. Cell 97, 543-546
30. Ibraghimov-Beskrovnaya, O. et al. (1992) Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355, 696-702
31. Henry, M.D. and Campbell, K.P. (1998) A role for dystroglycan in basement membrane assembly. Cell 95, 859-870
32. Williamson, R.A. et al. (1997) Dystroglycan is essential for early embryonic development: Disruption of Reichert's membrane in dag1-null mice. Hum. Mol. Genet. 6, 831-841
33. Grady, R.M. et al. (1999) Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat. Cell Biol. 1, 215-220
34. Kameya, S. et al. (1999) Alpha 1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration. J. Biol. Chem. 274, 2193-2200
35. Kim, T.W. et al. (1992) Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy. Proc. Natl. Acad. Sci. U.S.A. 89, 11642-11644
36. Nicholson, L.V.B. et al. (1993) Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients. J. Med. Genet. 30, 737-744
37. Jucker, M. et al. (1996) Laminin alpha 2 is a component of brain capillary basement membrane: Reduced expression in dystrophic dy mice. Neuroscience 71, 1153-1161
38. Tian, M. et al. (1996) Dystroglycan in the cerebellum is a laminin alpha 2-chain binding protein at the glial-vascular interface and is expressed in Purkinje cells. Eur. J. Neurosci. 8, 2739-2747
39. Górecki, D.C. et al. (1997) Differential expression of syntrophins and analysis of alternatively spliced dystrophin transcripts in the mouse brain. Eur. J. Neurosci. 9, 965-976
40. Blake, D.J. et al. (1998) Beta-dystrobrevin, a member of the dystrophin-related protein family. Proc. Natl. Acad. Sci. U. S. A. 95, 241-246
41. Brenman, J.E. et al. (1996) Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha 1-syntrophin mediated by PDZ domains. Cell 84, 757-767
42. Gee, S.H. et al. (1998) Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins. J. Neurosci. 18, 128-137
43. Lumeng, C. et al. (1999) Interactions between beta2-syntrophin and a family of microtubule-associated serine/threonine kinases. Nat. Neurosci. 2, 611-617
44. Peters, M.F. et al. (1997) Beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J. Biol. Chem. 272, 31561-31569
45. Blake, D.J. et al. Different dystrophin-like complexes are expressed in neurons and glia. J. Cell Biol. 147, 645-658
46. Brenman, J.E. et al. (1995) Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 82, 743-752
47. Hashida-Okumura, A. et al. (1999) Interaction of neuronal nitric-oxide synthase with alphal-syntrophin in rat brain. J. Biol. Chem. 274, 11736-11741
48. O'Brien, R.J. et al. (1998) Molecular mechanisms of glutamate receptor clustering at excitatory synapses. Curr. Opin. Neurobiol. 8, 364-369
49. Sattler, R. et al. (1999) Specific coupling of NMDA receptor activation to nitric oxide neurotoxicity by PSD-95 protein. Science 284, 1845-1848
50. Mehler, M.F. et al. (1992) Enhanced sensitivity of hippocampal pyramidal neurons from mdx mice to hypoxia-induced loss of synaptic transmission. Proc. Natl. Acad. Sci. U. S. A. 89, 2461-2465
51. Hopf, F.W. and Steinhardt, R.A. (1992) Regulation of intracellular free calcium in normal and dystrophic mouse cerebellar neurons. Brain Res. 578, 49-54
52. Cibis, G.W. et al. (1993) The effects of dystrophin gene mutations on the ERG in mice and humans. Invest. Ophthalmol. Vis. Sci. 34, 3646-3652
53. Pillers, D.M. et al. (1993) Dystrophin expression in the human retina is required for normal function as defined by electroretinography. Nat. Genet. 4, 82-86
54. D'Souza, V.N. et al. (1995) A novel dystrophin isoform is required for normal retinal electrophysiology. Hum. Mol. Genet. 4, 837-842
55. Kameya, S. et al. (1997) Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina. Hum. Mol. Genet. 6, 2195-2203
56. Stockton, R.A. and Slaughter, M.M. (1989) B-wave of the electro-retinogram. A reflection of ON bipolar cell activity. J. Gen. Physiol. 93, 101-122
57. Drenckhahn, D. et al. (1996) Dystrophin and the dystrophin-associated glycoprotein, beta-dystroglycan, co-localize in photoreceptor synaptic complexes of the human retina. Neuroscience 73, 605-612
58. Koulen, P. et al. (1998) Differential distribution of beta-dystroglycan in rabbit and rat retina. J. Neurosci. Res. 51, 735-747
59. Blank, M. et al. (1997) Subcellular concentration of beta-dystroglycan in photoreceptors and glial cells of the chick retina. J. Comp. Neurol. 389, 668-678
60. 3cv mouse retinae. Eur. J. Neurosci. 11, 2121-2133
61. Ueda, H. et al. (1998) Beta-dystroglycan localization in the photoreceptor and muller cells in the rat retina revealed by immunoelectron microscopy. J. Histochem. Cytochem. 46, 185-191
62. Voit, T. (1998) Congenital muscular dystrophies: 1997 update. Brain Dev. 20, 65-74
63. Kobayashi, K. et al. (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394, 388-392
64. Yamamoto, T. et al. (1997) Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy. Ultrastruct. Pathol. 21, 355-360