Muscular dystrophies and the dystrophin-glycoprotein complex

Current Opinion in Neurology

Volumn 10, Issue 2, 1997, Pages 168-175

  Straub, Volker ^a   Campbell, Kevin P ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; GLYCOPROTEIN;

ARTICLE; DUCHENNE MUSCULAR DYSTROPHY; GENE MUTATION; HUMAN; PROTEIN PURIFICATION;

EID: 0030909575     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199704000-00016     Document Type: Article

References (63)

1. •1 ENMC international work••shop on congenital muscular dystrophy. Neuro Musc Discord 1996, 4:295-306. An excellent and comprehensive review about the progress and the present state of research in CMDs.
2. Koenig M, Huffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and Individuals. Cell 1987, 50:509-517.
3. Campbell KP, Kahl SD Association of dystrophin and an integral membrane glycoprotein. Nature 1989, 338:259-262.
4. Campbell KP: Three muscular dystrophies: loss of cytoskeletonextracellular matrix linkage. Cell 1995, 80:675-679.
5. Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FMS, Romero NB et al.: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994, 78:625-633.
6. ••], the first report about a mutation in β-sarcoglycan gene. The paper demonstrates the important role of the sarcoglycan complex in the pathogenesis of autosomal recessive LGMD2E.
7. ••] the paper demonstrates the important role of the sarcoglycan complex in the pathogensis of autosomal recessive LGMD2E.
8. Noguchi S, McNally EM, Othmane KB, Hagiwara Y, Mizuno Y, Yoshida M, •• Yamamoto M, Bonnemann CG, Gussoni E, Denton PH et al.: Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995, 270:819-822. First report about a mutation of the γ-sarcoglycan gene. The paper demonstrates the important role of the sarcoglycan complex in the pathogensis of the autosomal recessive LGMD2C.
9. Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belisto A, Politano L, Puca ••AA, Passos-Bueno MR, Zatz M: Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, Is caused by a mutation in the δ-sarcoglycan gene. Nature Genet 1996, 14:195-198. First report about a mutation in the δ-sarcoglycan gene. Demonstrates the important role of the sarcoglycan complex in the pathogenesis of autosomal recessive LGMDs.
10. Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissen•bach J, Tomé FMS, -Schwartz K, Fardeau M, Tryggvason K, Guicheney P: Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genet 1995, 11:216-218 Describes the first mutation in the LAMA2 gene, causing CMD.
11. Henry MD, Campbell KP: Dystroglycan: an extracellular matrix recep•tor linked to the cytoskeleton. Curr Opin Cell Biol 1996, 8:625-631. This paper summarizes recent advances in understanding dystroglycan function in muscle and nonmuscle tissues.
12. Jung D, Yang B, Meyer J, Chamberlain JS, Campbell KP: Identification ••and characterization of the dystrophin anchoring site on β-dystroglycan. J Biol Chem 1995, 270:27305-27310. Using solution binding assays, the authors conduct a detailed analysis both of the dystroglycan binding site on dystrophin and vice versa.
13. Nigro V, Piluso G, Belisto A, Politano L, Puca AA, Papparella S, Rossi E, • Viglietto G, Esposito MG, Abbondanza C et al.: Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 1996, 5:1179-1186. This paper characterizes a previously unknown sarcoglycan protein.
14. Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke DP, •• Sunada Y, Moomaw CR, Leveille CJ et al.: Characterization of δ-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J Biol Chem 1996, 271:32321-32329. This paper demonstrates by biochemical studies that δ-sarcoglycan is indeed a component of the sarcoglycan complex.
15. Suzuki A, Yoshida M, Hayashi K, Mizuno Y, Hagiwara Y, Ozawa E: Molecular organization at the glycoprotein-complex-blnding site of dystrophin. Three dystrophin-associated proteins bind directly to the carboxy terminal portion of dystrophin. Eur J Biochem 1994, 220:283-292.
16. Yang B, Jung D, Motto D, Meyer J, Koretzky G, Campbell KP: SH3 domain-mediated interaction of dystroglycan and Grb2. J Biol Chem 1995, 270:11711-11714.
17. Song KS, Scherer PE, Tang ZL, Okamoto T. Li S. Chafel M, Chu C, Kohtz DS, Lisanti MP: Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. J Biol Chem 1996, 271:15160-15165.
18. Belkin AM, Burridge K: Association of aclculin with dystrophin and utrophin. J Biol Chem 1995, 270:6327-6337.
19. Moiseeva EP, Belkin AM. Spurr NK, Koteliansky VE, Critchley DR: A novel dystrophin/utrophin-associated protein is an enzymatically inactive member of the phosphoglucomutase superfamily. Eur Biochem 1996, 235:103-113.
20. Brenman JE, Chao DS, Xia H, Aldape K, Bredt DS: Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 1995, 82: 743-752.
21. Brenman JE, Chao DS, Gee SH, McGee AW, Craven SE. Santillano DR, • Wu Z, Huang F, Xia H, Peters MF et al. : Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and α1-syntrophin mediated by PDZ domains. Cell 1996, 84:757-767. The report is implicating a close association of nitric oxide synthase with the DGC and a potential role of free radicals in the pathogenesis of DMD and BMD.
22. Chao DS, Gorospe JRM. Brenman JE, Rafael JA, Matthew FP, Stanley • CF, Huffman EP, Chamberlain JS. Bredt DS: Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy. J Exp Med 1996, 184:609-618.
23. Blake DJ. Nawrotzki MF, Peters SC, Froehner SC, Davies KE: Isoform • diversity of dystrobrevln, the murine 87-kDa postsynaptic protein. J Biol Chem 1996, 271:7802-7810. This group characterized multiple isoforms of murine dystrobrevin, their tissue distribution, and their association with dystrophin, utrophin and syntrophin.
24. Sadoulet-Puccio HM. Khurana TS, Cohen JB, Kunkel LM: Cloning and • characterization of the human homologue of a dystrophin related phosphoprotein found in the Torpedo electric organ post-synaptic membrane. Hum Mol Genet 1996, 5:489-496. The paper characterizes multiple isoforms of human dystrobrevin, their tissue distribution, and their association with dystrophin, utrophin, and syntrophin.
25. Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM: The • three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J Biol Chem 1996, 271:2724-2730. The biochemical and genetic characteristics of the three homologous human syntrophins and their genes are summarized.
26. Yoshida M, Yamamoto H. Noguchi S, Mizuno Y, Hagiwara Y, Ozawa E: Dystrophin-associated protein A0 Is a homologue of the Torpedo 87K protein. FEBS Lett 1995, 367:311-314.
27. Suzuki AM, Yoshida M, Ozawa E: Mammalian α1- and α1-syntrophin bind to the alternatively splice-prone region of the dystrophin COOH terminus. J Cell Biol 1995, 128:373-381.
28. Khurana TS, Engle EC. Bennett RR, Silverman GA, Selig S, Bruns GAP, Kunkel LM: (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Hum Mol Genet 1994, 3:841.
29. den Dunnen JY, Frootscholten PM, Bakker, E Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ et al.: Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 case reveals 115 deletions and 13 duplications. Am J Hum Genet 1989, 45:835-847.
30. Beggs AH, Huffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM: Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and proteins studies. Am J Hum Genet 1991, 49:54-67.
31. Nicholson LVB, Johnson MA, Bushby KMD, Gardner-Medwin D, Curtis A, Ginjaar IB, den Dunnen JT, Welch JL, Butler TJ, Bakker E et al:. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and hitopathological data. Part 1, 2, and 3. J Med Genet 1993, 30:728-751.
32. Hoffman EP: Genotype/phenotype correlations in Duchenne/Becker muscular dystrophy. Mol Cell Biol Hum Dis 1993, 3:12-36.
33. Rafal JA, Cox GA, Jung D, Campbell KP, Chamberlain JS: Forced •• expression of dystrophin deletion constructs reveals structure function correlations. J Cell Biol 1996, 134:93-102. In this study, the authors generated mdx mouse strains expressing a series of deletion constructs covering the carboxy-terminal domain of dystrophin. The results provide a critical in-vivo test of the predictions made in vitro.
34. Winnard AV, Klein CJ, Coovert DD, Prior T, Papp A, Snyder P, Bulman DE, Ray PN, McAndrew P, King W et al.. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum Mol Genet 1993, 2:737-744.
35. Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu SK, Abbs S, Roberts R. Hodgson SV, Bobrow M, Dubowitz V: Deletions in the 5' region of dystrophin and resulting phenotypes. J Med Genet 1994, 31:843-847.
36. Corrado K, Rafael JA, Mills PL, Cole NM, Faulkner JA. Wang K, Chamber• lain JS: Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a 'mild Becker' phenotype. J Cell Biol 1996, 134: 873-884 By generating transgenic mice deleted for the N-terminal actin binding sites of dystrophin, the group demonstrated the importance of expression levels of truncated proteins for structure function analysis.
37. Phelps SF, Hauser NM, Cole NM, Rafael JA, Hinkle RT, Faulkner JA, Chamberlain JS: Expression of full-length and truncated dystrophin mini-genes in transgenic mdx ice. Hum Mol Genet 1995, 4:1251-1258.
38. Rybakova IN, Amann KJ, Ervasti JM: A new model for the interaction of •• dystrophin with F-actin. J Cell Biol 1996, 135.661-672. Using different approaches to examine F-actin binding properties of dystrophin, the authors located a novel F-actin binding site in the dystrophin rod domain and proposed an actin side binding function for dystrophin.
39. Cox GA, Sunada Y, Campbell KP, Chamberlain JS: Dp71 can restore the dystrophln-associated glycoprotein complex in muscle but fails to prevent dystrophy. Nature Genet 1994, 8:333-339.
40. Greenberg DS, Sunada Y, Campbell KP, Yaffe D, Nudel U: Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice. Nature Genet 1994, 8:340-344.
41. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C et al.: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995, 81:27-40.
42. Allamand V, Broux O, Bourg N, Richard I, Tischfield JA, Hodes ME, Conneally PM, Fardeau M, Jackson CE. Beckmann JS: Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. Hum Mol Genet 1995, 4:459- 463.
43. Ben Othmane K, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Biel S, Carter S, Bowcock AM, Petruhkin K, Gilliam T, Roses A et al.: Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet 1992, 2:315-317.
44. Passos-Bueno MR, Moreira ES. Vainzof M, Marie SK, Zatz M: Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 1996, 5:815-820.
45. Piccolo F, Roberds SL, Jeanpierre M, LeTurcq F, Azibi K. Beldjord C, Carrie A, Recan D. Chaouch M, Reghis A et al.: Primary adhalinophathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet 1995, 10:243-245.
46. Passos-Bueno MR, Marie ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, lughetti P, Olivera JR, Bakker E et al.: Main clinical feature for the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. J Med Genet 1996, 33:97-102.
47. McNally EM, Passos-Bueno MR, Bönnemann CG, Vainzof M, de Sá Moreira E, Lidov HGW, Ben Othmane K, Denton PH, Vance JM, Zatz M, Kinkel LM: Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 1996, 59:1040-1047.
48. McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HGW, Noguchi S, Ozawa E, Finkel RS et al.: Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum Mol Genet 1996, 5:1841-1847.
49. Bönnemann CB, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira. Marie SK, Pavanello RCM, Noguchi S, Ozawa E. Zatz M, Kunkel LM: Genomic screening for γ-sarcoglycan gene mutations: mlssense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 1996, 5:1953-1961.
50. Vainzof M. Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RCM, • Marie SK, Anderson LVB, Bönnemann CG, McNally EM, NigroV et al.: The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996, 5:1963-1969. The report summarizes the clinical, immunohistochemical and immunobiochemical findings in 21 patients with autosomal recessive LGMD.
51. Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M et al.: Primary adhalinopathy (α-sarcoglycanopathy): clinical, pathological and genetic correlation in twenty patients with autosomal recessive muscular dystrophy. Neurology 1997 (In press).
52. Arahata K, Ishii H, Hayashi YK: Congenital muscular dystrophies. Curr Opin Neurol 1995, 8:385-390.
53. Tomé FMS, Evangelista J, Leclerc A, Sunada Y. Manole E, Estournet B, Barois A, Campbell KP, Fardeau M: Congenital muscular dystrophy with merosin deficiency. CR Acad Sci Paris 1994, 317:351-357.
54. Nissinene M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, • Cruaud C, Weissenbach J, Fardeau M. Tomé FMS, Schwarz K et al.: Substitution of conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet 1996, 58:1177-1184. This paper provides the first report of a homozygous missense mutation in the LAMA2 gene leading to CMD with partial deficiency of the laminin α2 chain.
55. Voit T, Fardeau M, Tomé FMS: Prenatal detection of mecosin expression in human placenta. Neuropediatrics 1994, 25:332-333.
56. North KN, Beggs AH: Deficiency of skeletal muscle isoform of α-actinin (α-actinin 3) in merosin-positlve congenital muscular dystrophy. Neuromusc Disord 1996, 4:229-235.
57. •].
58. •].
59. •] demonstrate that the loss ot plectin from the hemidesmosomes in basal keratinocytes and from the sarclemma leads to epidermolysis bullosa with muscular dystrophies. They imply that plectin is involved in the link of the cytoskeleton to the plasma membrane, in a manner analogous to that of dystrophin and the DGC.
60. Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jöbsis GJ, Vance JM, Viles KD, Sheffield K et al.: Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet 1996, 5:1043-1046.
61. Jöbsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, •• Baas F, Bolhuis PA: Type Vl collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nature Genet 1996, 14.113-115. The identification of type VI collagen mutations causing muscular dystrophy underlines the importance of the link between the extracellular matrix and the muscle fiber for cell viability.
62. Hauser MA, Chamberlain JS: Progress toward gene therapy for Duchenne muscular dystrophy. J Endocrinol 1996, 149:373-378.
63. Tinsely JM, Potter AC, Phelps SR, Fisher R, Trickett JI, Davies KE: • Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 1996, 384:349-353. The paper provides the first evidence that the use of utrophin and utrophin-minigene transfer is a potential therapeutic strategy for muscular dystrophies.