Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

American Journal of Pathology

Volumn 153, Issue 4, 1998, Pages 1169-1179

  Anderson, Louise V B ^a   Davison, Keith ^a   Moss, Jennifer A ^a   Richard, Isabelle ^b   Fardeau, Michel ^c   Tomé, Fernando M S ^c   Hübner, Christoph ^d   Lasa, Adriana ^e   Colomer, Jaume ^f   Beckmann, Jacques S ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b GÉNÉTHON   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d HUMBOLDT UNIVERSITY   (Germany)

^e HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN; CALPAIN 3; GENE PRODUCT; MONOCLONAL ANTIBODY; NEUTRAL PROTEINASE; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN STABILITY;

EID: 0031662389     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)65661-1     Document Type: Article

References (38)

1. Noguchi S, McNally EM, Othmane KB, Hagiwara Y, Mizuno Y, Yoshida M, Yamanmoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Hamida MB, Nonaka I, Vance JM, Kunkel LM, Ozawa E: Mutations in the dystrophin-associated protein-γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995, 270:819-822
2. Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FMS, Romero NB, Fardeau M, Beckmann JS, Kaplan J-C, Campbell KP: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994, 78:625-633
3. Lim LE, Duclos F, Broux O, Bourg N, Sanada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, Tomé FMS, Fardeau M, Jackson CE, Beckmann JS, Campbell KP: β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995, 11:257-265
4. Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belsito 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. Nat Genet 1996, 14:195-198
5. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passos-Bueno MR, Zatz M, Tischfield JA, Fardeau M, Jackson CE, Cohen D, Beckmann JS: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995, 81:27-40
6. Bushby K, Bashir R, Keers S, Britton S, Zatz M, Passos-Bueno MR, Lovett M, Mahjneh I, Marconi G, Strachan T: The molecular biology of LGMD2B: towards the identification of the LGMD gene on chromosome 2p13. Neuromusc Disord 1996, 6:491-492
7. Moreira ES, Vainzof M, Marie SK, Sertie AL, Zatz M, Passos-Bueno MR: The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 1997, 61:151-159
8. Bushby KMD, 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
9. Bushby KMD: Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromusc Disord 1995, 5:71-74
10. Anderson LVB: Optimised protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies. Neuromusc Disord 1996, 6:443-446
11. Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RCM, Noguchi S, Ozawa E, Zatz M, Kunkel LM: Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 1996, 5:1953-1961
12. Vainzof M, Passos-Bueno MR, Canovas M, de Sá Moreira E, Pavanello RCM, Marie SK, Anderson LVB, Bönnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M: The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996, 5:1963-1969
13. Sewry C, Taylor J, Anderson LVB, Ozawa E, Pogue R, Piccolo F, Bushby KMD, Dubovitz V, Muntoni F: Abnormalities in α-, β-and γ-sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromusc Disord 1996, 6:467-474
14. Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M, Merlini L, Thémar-Noël C, Penisson I, Mayer M, Tanguy O, Campbell KP, Kaplan JC, Tomé FMS, Fardeau M: Primary adhalinopathy (α-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997, 48:1227-1234
15. Barresi R, Confalonieri V, Lanfossi M, Di Blasi C, Torchiana E, Mantegazza R, Jarre L, Nardocci N, Boffi P, Tezzon F, Pini A, Cornelio F, Mora M, Morandi L: Concomitant deficiency of β-and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects. Acta Neuropathol 1997, 94:28-35
16. Sorimachi H, Kimura S, Kinbara K, Kazama J, Takahashi M, Yajima H, Ishiura S, Sasagawa N, Nonaka I, Sugita H, Maruyama K, Suzuki K: Structure and physiological functions of ubiquitous and tissue-specific calpain species: muscle-specific calpain, p94, interacts with connectin/titin. Adv Biophys 1996, 33:101-122
17. Sorimachi H, Ishiura S, Suzuki K: Structure and physiological function of Calpains. Biochem J 1998, 328:721-732
18. Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K: Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m-and n-types: specific expression of the mRNA in skeletal muscle. J Biol Chem 1989, 264:20106-20111
19. Ma H, Fukiage C, Azuma M, Shearer TR: Cloning and expression of mRNA for calpain Lp82 from rat lens: splice variant of p94. Invest Ophthalmol Vis Sci 1998, 39:454-461
20. Spencer MJ, Tidball JG, Anderson LVB, Bushby KMD, Harris JB, Passos-Bueno MR, Somer H, Vainzof M, Zatz M: Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). J Neurol Sci 1997, 146:173-178
21. Nicholson LVB, Davison K, Falkous G, Harwood C, O'Donnell E, Slater CR, Harris JB: Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody. J Neural Sci 1989, 94:125-136
22. Anderson LVB, Multiplex Western blot analysis of the muscular dystrophy proteins. Muscular Dystrophy: Methods and Protocols. Methods in Molecular Medicine Series. Edited by KMD Bushby, LVB Anderson. New Jersey, Humana Press, 1998 (in press)
23. Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS: Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet 1997, 60:1128-1138
24. Häffner K, Speer A, Hübner C, Voit T, Oexle K: A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A. Hum Mutat 1998, (Suppl.) 1:S298-S300
25. Taylor J, Muntoni F, Robb S, Dubowitz V, Sewry C: Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for lammin β1? Neuromusc Disord 1997, 7:211-216
26. 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy. Arch Neurol 1997, 54:1457-1461
27. Sorimachi H, Toyama-Sorimachi N, Saido TC, Kawasaki H, Sugita H, Miyasaka M, Arahata K, Ishiura S, Suzuki K: Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle. J Biol Chem 1993, 268:10593-10605
28. Spencer MJ, Croall DE, Tidball JG: Calpains are activated in necrotic fibers from mdx dystrophic mice. J Biol Chem 1995, 270:10909-10914
29. Pons F, Nicholson LVB, Robert A, Voit T, Léger JJ: Dystrophin and dystrophin-related protein (utrophin) distribution in normal and dystrophin-deficient skeletal muscles. Neuromusc Disord 1993, 3:507-514
30. Rivier F, Robert A, Latouche J, Hugon G, Mornet D: Presence of long and short dystrophin and/or utrophin products in Torpedo marmorata peripheral nerves. FEBS Lett 1996, 378:272-276
31. 2+-binding domain. J Biol Chem 1993, 268:19476-19482
32. Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K, Suzuki K: Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J Biol Chem 1995, 270:31158-31162
33. Fougerousse F, Durand M, Suel L, Pourquié O, Delezoide A-L, Romero NB, Abitbol M, Beckmann JS: Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. Genomics 1998, 48:145-156
34. Kinbara K, Sorimachi H, Ishiura S, Suzuki K: Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs. Arch Biochem Biophys 1997, 342:99-107
35. Poussard S, Duvert M, Balcerzak D, Ramassamy S, Brustis JJ, Cottin P, Ducastaing A: Evidence for implication of muscle-specific calpain (p94) in myofibrillar integrity. Cell Growth Differ 1996, 7:1461-1469
36. Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, De Ubeda B, Collin H, Tomé FMS, Richard I, Beckmann J: Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996, 119:295-308
37. Beckmann JS, Fardeau M: Limb-girdle muscular dystrophies. Neuromuscular Disorders: Clinical and Molecular Genetics, ch 6. Edited by AEH Emery. New York, John Wiley, 1998, pp 123-156
38. Topaloglu H, Dinçer P, Richard I, Akcoren Z, Alehan D, Ozme S, Caglar M, Karaduman A, Urtizberea JA, Beckmann JS: Calpain-3 deficiency causes a mild muscular dystrophy in childhood. Neuropediatrics 1997, 28:212-216