Inherited disorders of the extracellular matrix

Current Opinion in Neurology

Volumn 12, Issue 5, 1999, Pages 519-526

  Sewry, Caroline A ^a   Muntoni, Francesco ^b  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b Robert Jones and Agnes Hunt O ^*  (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; LAMININ; SCLEROPROTEIN;

ANIMAL MODEL; EXTRACELLULAR MATRIX; GENE MUTATION; HUMAN; INHERITANCE; NEUROMUSCULAR DISEASE; PROTEIN EXPRESSION; PROTEIN SECONDARY STRUCTURE; REVIEW;

ANIMALS; DISEASE MODELS, ANIMAL; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MUTATION; NEUROMUSCULAR DISEASES;

EID: 0033396927     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199910000-00005     Document Type: Review

References (84)

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31. 31 Philpot J, Bagnall A, King C, Dubowitz V, Muntoni F. Feeding problems in merosin-deficient congenital muscular dystrophy. Arch Dis Child 1999; 80:542-547. This illustrates an important aspect of management of these patients.
32. 32 Spyrou N, Philpot J, Foale R, Muntoni F, Camici P. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J 1998; 136:474-476. Cardiac function is only compromised in some children with this form of CMD. Nevertheless the results reported show that cardiac monitoring needs to form part of clinical management.
33. 33 Mercuri E, Anker S, Philpot J, Sewry C, Dubowitz V, Munton F. Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy. Pediatr Neurol 1998; 5:399-401.
34. 34 Philpot J, Munton F. Limitation of eye movement in merosin-deficient congenital muscular dystrophy. Lancet 1999; 353:297-298. These clinical observations are interesting as the eyes are usually spared in neuromuscular disorders caused by defects in sarcolemmal proteins.
35. 35 Farina L, Morandi L, Milanesi I, Ciceri E, Mora M, Moroni I, et al. Congenital muscular dystrophy with merosin deficieny: MRI findings in five patients. Neuroradiology 1998; 40:807-811. This confirms the importance of MRI studies.
36. 36 Mercuri E, Pennock J, Goodwin F, Sewry C, Cowan F, Dubowitz L, et al. Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy. Neuromusc Disord 1996; 6:425-429.
37. 37 Martinello F, Angelinin C, Trevisan CP. Congenital muscular dystrophy with partial merosin deficiecny and late onset epilepsy. Eur Neurol 1998; 40:37-45, The occurrence of epilepsy in CMD is highlighted by this paper.
38. 38 Tsoa C-Y, Mendell J, Rusin J, Luquette M. Congenital muscular dystrophy with complete laminin-α2 deficiency, cortical dysplasia, and cerebral white-matter changes in children. J Child Neurol 1998; 13:253-256. This report of structural brain defects in association with laminin-α2 deficiency illustrates an important aspect of the disorder that has gradually become apparent.
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40. 40 Philpot J, Cowan F, Pennock J, Sewry C, Dubowitz V, Bydder G, Muntoni F. Merosin-deficient congenital muscular dystrophy, the spectrum of brain involvement on magnetic resonance imaging. Neuromusc Disord 1999; 9:81-85. This is a good summary of brain changes in several patients deficient in laminin-α2. It emphasizes that structural as well as MRI changes are an important component of merosin-deficient CMD.
41. 41 Traturo AL, Lubieniecki F, Diaz D, Schultz M, Ruggieri V, Saccoliti, Dubrovsky A. Merosin-deficent congenital muscular dystrophy associated with abnormal cerebral cortical gyration. Neuromusc Disord 1999; 9:86-94. The only autopsy report from a known laminin-α2 deficient patient is presented.
42. 42 Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Sevin E, et al. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromusc Disord 1997; 7:85-90.
43. 43 Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, et al. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine. Am J Hum Genet 1998; 62:1439-1445. This is the first identification of a locus in the group of CMD patients with normal laminin-α2. It is not yet known whether an extracellular matrix protein is involved.
44. 44 Voit T, Cohn RD, Sperner J, Leube B, Sorokin L, Toda T, Hermann R. Merosin positive congenital muscular dystrophy with transient brain dysmyelination. pontocerebellar hypoplasia and mental retardation. Neuromusc Disord 1999; 9:95-101. This is an interesting case report of a child with normal immunocytochemical expression of laminin-α2 who had structural brain changes and abnormal MRI brain changes at 1 year of age. By 4 years of age the white matter was normal. The authors suggest this may represent a new clinical entity.
45. 45 Jöbsis GJ, Boers JM, Barth PG, de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 1999; 122:649-655. Some interesting clinical observations on young cases of Bethlem myopathy are presented that illustrate the broadening clinical spectrum in this disorder.
46. 46 Jobsis GJ, Keizers H, Vreijing JP, de Visser M, Speer MC, Wolterman RA. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nature Genet 1996; 14:113-115.
47. 47 Bertini E, Giusti B, Brunelli T. Characterisation of COL6 mutations in two Italian families with Bethlem myopathy. Neuromusc Disord 1998; 8:249-This paper describes identification of the involvement of the third collegen VI gene (COL63A) in Bethlem myopathy. A mutation in any of three collagen VI genes can result in Bethlem myopathy. Detailed genotype-phenotype correlations are awaited. With the molecular identification of the disorder the clinical phenotype is likely to broaden.
48. 48 Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich J, et al. Missence mutation in a von Willebrand factor type A domain of the alpha3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet 1998; 7:807-812. This paper provides further confirmation that mutations in any of the three collagen VI genes can lead to Bethlem myopathy.
49. 49 Lamanda SR, Batemen JF, Hutchinson W, McKinlay Gardner RJ, Bower SP, et al. Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsence mutation results in mRNA decay and functional haploinsufficiency. Hum Mol Genet 1998; 7:981-989. This illustrates haploinsufficiency and a reduction in the amount of protein because of messenger RNA instability, as a mechanism in a dominant disorder.
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51. 51 Hayashi YK, Engvall E, Arikawa-Hirasawa E, Gotto K, Koga R, Nonaka I, et al. Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993; 119:53-64.
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53. 53 Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394:388-392. Identification of the gene, mutation and protein responsible for Fukuyama CMD in patients carrying a founder haplotype is an important development in the field. Two point mutations are also described, one of which is of non-Japanese origin, suggesting that this form of CMD may occur elsewhere. The gene product is a novel secreted protein, suggesting an extracellular role.
54. 54 Toda T, Kobayashi K, Kondo-lida E, Sasaki J, Yusuke N. The Fukuyama-type congenital muscular dystrophy story. Neuromusc Disord 1999 (in press).
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57. ••]).
58. 58 Haltia M, Leivo I, Somer H, Pihko H, Paetau A, Kivela T, et al. Muscle eye brain disease: a neuropathological study. Ann Neurol 1997; 42:273-280.
59. 2, highlighting a role of the extracellular matrix in this disorder and confirming a previous report [58].
60. 60 Villanova M, Sabatelli P, He Y, Malandrini A, Petrini S, Maraldi NM, Merlini L. Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. Acta Neuropathol (Berl) 1998; 96:651-654. This pathological report confirms the reduction of laminin-α2 and α-sarcoglycan (see [62]), contrary to previous findings [63].
61. 61 Kanoff RJ, Curless RG, Petito C, Falcone S, Siatowski RM, Pegoraro E. Walker-Warburg syndrome: neurological features and muscle membrane structure. Pediatr Neurol 1998; 18:76-80. This is another report pathological findings in this rare form of CMD. Decreased immunostaining for laminin-α2 and β-dystroglycan were observed, but this is contrary to a previous report [63], which may reflect heterogeneity in this disorder.
62. 62 Wever UM, Durkin ME, Zang X, Lauren H, Nielsen NH, Towfighi, et al. Laminin beta2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular-dysplasia-muscular dystrophy. Neurology 1995; 45:2099-2101.
63. 63 Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Kahn T, et al. Preserved merosin expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropaediatrics 1995; 26:129-180.
64. 64 Topaloglu H, Talim B, Vignier N, Helbling-Leclerc A, Yetuk M, Afsin IE, et al. Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings. Neuromusc Disord 1998; 8:169-174. The difficulty of assessing very pathological samples is apparent in this report. It may, however, represent another rare example of secondary merosin deficiency.
65. 65 Bushby K, Anderson LVB, Pollitt C, Naom I, Muntoni F, Bindoff L. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain 1998; 121:581-588. These intriguing observations have important implications for the interpretation of immunoblots and immunohistochemistry. Which is right?
66. 66 Tiger C-F, Champliaud M-F, Pedrosa-Domello F, Thornell L-E, Ekblom P, Gullberg D. Presence of laminin α5 chain and lack of laminin α1 chain during human muscle development and in muscular dystrophies. J Biol Chem 1997; 272:28590-28595.
67. 67 Burkin DJ, Kaufmann SJ. The alpha7beta1integrin in muscle develpoment and disease. Cell Tissue Res 1999; 296:183-190. A good summary of changes in this integrin complex in human diseases and muscle development is provided. It confirms the reduction in CMD and highlights its role in muscle.
68. 68 North KN, Beggs AH. Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromusc Disord 1996; 6:229-235.
69. 69 Vainzof M, Costa CS, Marie SK, Moreira ES, Reed U, Passos-Bueno MR, et al. Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy. Neuropaediatrics 1997; 28:223-228.
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71. 71 Merlini L, Villanova M, Sabatelli P, Squarzoni S, Maraldi NM. Decreased expression of laminin beta 1 in the muscle biopsy of patients affected by Bethlem myopathy. Neuromusc Disord 1999; 9:326-329. Secondary changes in protein expression are an important aspect of the assessment of biopsies. The involvement of another extracellular matrix component in a disorder that primarily affects collagen illustrates the interrelationship of these proteins.
72. 72 Taylor J, Muntoni F, Dubowitz V, Sewry CA. Early onset autosomal dominant myopathy; a role for laminin β1? Neuromusc Disord 1997; 7:211-216.
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77. •], the differential expression of laminin-α2 requires an explanation.
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80. 80 Vilquin JT, Kinoshita I, Roy B, Goulet M, Engvall E, Tomé F, et al. Partial laminin α2 chain restoration in α2 chain-deficient dy/dy mouse by primary muscle cell culture transplantation. J Cell Biol 1996; 133:185-197.
81. 81 Hayes A, Williams DA. Examining potential drug therapies for muscular dystrophy utilising the dy/dy mouse: I. Clenbuterol. J Neurol Sci 1998; 157:122-128. Although drug therapy has been used in the treatment of Duchenne muscular dystrophy, this has not yet been attempted for CMDs. This paper suggests that drug therapy may be of some benefit.
82. 82 Kuang W, Xu H, Vachon PH, Liu L, Loechel F, Wewer UM, Engvall E. Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. J Clin Invest 1998; 102:844-852. (Erratum 102: following page 1275.) This paper illustrates that the introduction of the appropriate gene can be beneficial, but in the case of laminin-α2 deficiency targeting neural tissues may also be necessary.
83. 83 Bonaldo P, Braghetta P, Zanetti M, Piccolo S, Volpin D, Bressan GM. Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem. Hum Mol Genet 1998; 7:2135-2140. This is another example of a mouse mutant that may be useful in studies of pathogenesis.
84. 84 Mayer U, Saher G, Faessler R, Boornemann A, Echtermeyer F, vonder Mark H, et al. Absence of integrin α7 causes a novel form of muscular dystrophy. Nature Genet 1997; 17:318-323.