Analysis of muscle calpain-3 in LGMD 2A

October 2, 2012

Analysis of muscle calpain-3 in LGMD 2A

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Title:	Analysis of muscle calpain-3 in LGMD 2A
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Article_Title:	Analysis of muscle calpain-3 in LGMD 2A
Authors:	Gisela Gaina, Emilia Manole, Cristina Bordea, Elena Ionica
Affiliation:	1 Biology Molecular Center, University of Bucharest 2 National Institute of Pathology “Victor Babes”, Bucharest, Romania
Abstract:	Muscular dystrophies are a heterogeneous group of genetically determined disorders characterized by progressive muscle weakness and wasting with variable distribution and severity. The mode of inheritance, the age of onset, the involvement of particular skeletal muscle types, as well as variable serum concentration and the overall progression have been used to classify different forms of muscular dystrophy. Several proteins from sarcolemma (dystrophin, sarcoglycans, caveolin-3), and muscle fibres cytoplasm (calpain 3) have been identified. Most of these proteins appear to play a role in supporting the structure of muscle fibres and some of them are known to be involved in molecular signaling and biochemical processes. Mutations in theirs genes are responsible for different forms of muscular dystrophies. By our studies, the diagnosis of calpainopathy was obtained by identifying calpain-3 protein deficiency by western blotting. We report here an interesting case with LGMD 2A with calpain-3 absent and reduced gammasarcoglycan.
Keywords:	limb girdle muscular dystrophy, dystrophin glycoprotein complex, genetics, calpain 3
References:	Anderson LV, Davison K, Moss JA, Richard I, Fardeau M, Tome FM, Hubner C, Lasa A, Colomer J & Beckmann JS . 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, 153: 1169-1179, 1998. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos- Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37–42, 1998. Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology; 39:465– 74. 1989. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet; 21:285–8. 1999. Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet; 11:266–73. 1995. Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet; 10:2851–9.2001. Cohn, R.D. and Campbell, K.P. (2000) Molecular basis of muscular dystrophies. Muscle Nerve 23, 1456–1471. Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K. Limbgirdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3 ubiquitin-ligase gene. Am J Hum Genet; 70:663–72, 2002. H. Sorimachi, N. Toyama-Sorimachi, T.C. Saido, H. Kawasaki, H. Sugita, M. Miyasaka, K. Arahata, S. Ishiura, K. Suzuki, Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle, J. Biol. Chem. 268 10593–10605, 1993. H. Sorimachi, S. Imajoh-Ohmi, Y. Emori, H. Kawasaki, S. Ohno, Y. Minami, K. Suzuki, Molecular cloning of a novel mammalian calcium-dependent protease distinct from both mand l-types. Specific expression of the mRNA in skeletal muscle, J. Biol. Chem. 264 20106–20111, 1989. Hauser MA, Horrigan SK, Salmikangas P, Vles KD, Tim RW, Torian UM, Taivainen U, Bartoloni L, Dancel R, Gilchrist JM, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 9:2141–7, 2000. Hoffman, E.P. et al. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919–928, 1987. K. Kinbara, H. Sorimachi, S. Ishiura, K. Suzuki, Skeletal muscle specific calpain, p94, Biochem. Pharmacol. 56 415–420, 1989. Koenig M, Hoffman 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 affected individuals. Cell 50: 509-517, 1987. Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1; 257–65, 1995. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20:31–6, 1998. M Vainzof, F de Paula, A M Tsanaclis, M Zatz, The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A, J Clin Pathol ;56:624–626, 2003. M. Fardeau, B. Eymard, C. Mignard, F. M. S. Tomb, I. Richard, J. Beckmann. Chromosome 15-linked limb girdle muscular dystrophy — clinical phenotype Neuromuscular Disorders, Volume 6, Issue 2, March, Page S7, 1996. Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco P, Egeo A, Donati MA. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet; 18:365–8.1998. Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 24:163–6.2000 Nicholson LVB, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB: Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol , 80:239–250, 1990. Nigro V, Moreira ES, 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 delta-sarcoglycan gene. Nat Genet 14:195–8.1996. Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet; 5:1179–86.1996. Nigro V. Molecular bases of autosomal recessive limbgirdle muscular dystrophies. Acta Myol;22:35–42.2003. Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science; 270:819–22.1995. Palenzuela L, Andreu AL, Gamez J, Vila MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology; 61:404–6., 2003. Paula F, Vainzof M, Passos-Bueno MR, Pavanello RCM, Matioli SR, Anderson LVB, Nigro V & Zatz M. Clinical variability in calpainopathy: What makes the difference? European Journal of Human Genetics, 10: 825-832. 2002. 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; 81:27–40.1995. 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; 78:625–33.1994. Speer MC, Vance JM, Grubber JM, Lennon-Graham F, Stajich JM, Viles KD, Rogala A, McMichael R, Chutkow J, Goldsmith C, Tim RW, Pericak- Vance MA. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet; 64:556–62.1999. Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. A new form of autosomal dominant limbgirdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet; 13:264.2005. Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb girdle, Neuromuscular Disord; 13:532–44.2003.
Read_full_article:	pdf/18-2008/SU08Gaina.pdf
Correspondence:	Gisela Gaina, University of Bucharest, Molecular Biology Center, no. 91-95, Spl. Independentei, Bucharest 5, Romania, Tel +40-(21)-318 1575; 0040766600580, email: giselagaina@yahoo.com

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Article Title:	Analysis of muscle calpain-3 in LGMD 2A
Authors:	Gisela Gaina, Emilia Manole, Cristina Bordea, Elena Ionica
Affiliation:	1 Biology Molecular Center, University of Bucharest 2 National Institute of Pathology “Victor Babes”, Bucharest, Romania
Abstract:	Muscular dystrophies are a heterogeneous group of genetically determined disorders characterized by progressive muscle weakness and wasting with variable distribution and severity. The mode of inheritance, the age of onset, the involvement of particular skeletal muscle types, as well as variable serum concentration and the overall progression have been used to classify different forms of muscular dystrophy. Several proteins from sarcolemma (dystrophin, sarcoglycans, caveolin-3), and muscle fibres cytoplasm (calpain 3) have been identified. Most of these proteins appear to play a role in supporting the structure of muscle fibres and some of them are known to be involved in molecular signaling and biochemical processes. Mutations in theirs genes are responsible for different forms of muscular dystrophies. By our studies, the diagnosis of calpainopathy was obtained by identifying calpain-3 protein deficiency by western blotting. We report here an interesting case with LGMD 2A with calpain-3 absent and reduced gammasarcoglycan.
Keywords:	limb girdle muscular dystrophy, dystrophin glycoprotein complex, genetics, calpain 3
References:	Anderson LV, Davison K, Moss JA, Richard I, Fardeau M, Tome FM, Hubner C, Lasa A, Colomer J & Beckmann JS . 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, 153: 1169-1179, 1998. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos- Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37–42, 1998. Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology; 39:465– 74. 1989. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet; 21:285–8. 1999. Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet; 11:266–73. 1995. Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet; 10:2851–9.2001. Cohn, R.D. and Campbell, K.P. (2000) Molecular basis of muscular dystrophies. Muscle Nerve 23, 1456–1471. Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K. Limbgirdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3 ubiquitin-ligase gene. Am J Hum Genet; 70:663–72, 2002. H. Sorimachi, N. Toyama-Sorimachi, T.C. Saido, H. Kawasaki, H. Sugita, M. Miyasaka, K. Arahata, S. Ishiura, K. Suzuki, Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle, J. Biol. Chem. 268 10593–10605, 1993. H. Sorimachi, S. Imajoh-Ohmi, Y. Emori, H. Kawasaki, S. Ohno, Y. Minami, K. Suzuki, Molecular cloning of a novel mammalian calcium-dependent protease distinct from both mand l-types. Specific expression of the mRNA in skeletal muscle, J. Biol. Chem. 264 20106–20111, 1989. Hauser MA, Horrigan SK, Salmikangas P, Vles KD, Tim RW, Torian UM, Taivainen U, Bartoloni L, Dancel R, Gilchrist JM, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 9:2141–7, 2000. Hoffman, E.P. et al. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919–928, 1987. K. Kinbara, H. Sorimachi, S. Ishiura, K. Suzuki, Skeletal muscle specific calpain, p94, Biochem. Pharmacol. 56 415–420, 1989. Koenig M, Hoffman 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 affected individuals. Cell 50: 509-517, 1987. Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1; 257–65, 1995. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20:31–6, 1998. M Vainzof, F de Paula, A M Tsanaclis, M Zatz, The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A, J Clin Pathol ;56:624–626, 2003. M. Fardeau, B. Eymard, C. Mignard, F. M. S. Tomb, I. Richard, J. Beckmann. Chromosome 15-linked limb girdle muscular dystrophy — clinical phenotype Neuromuscular Disorders, Volume 6, Issue 2, March, Page S7, 1996. Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco P, Egeo A, Donati MA. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet; 18:365–8.1998. Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 24:163–6.2000 Nicholson LVB, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB: Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol , 80:239–250, 1990. Nigro V, Moreira ES, 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 delta-sarcoglycan gene. Nat Genet 14:195–8.1996. Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet; 5:1179–86.1996. Nigro V. Molecular bases of autosomal recessive limbgirdle muscular dystrophies. Acta Myol;22:35–42.2003. Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science; 270:819–22.1995. Palenzuela L, Andreu AL, Gamez J, Vila MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology; 61:404–6., 2003. Paula F, Vainzof M, Passos-Bueno MR, Pavanello RCM, Matioli SR, Anderson LVB, Nigro V & Zatz M. Clinical variability in calpainopathy: What makes the difference? European Journal of Human Genetics, 10: 825-832. 2002. 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; 81:27–40.1995. 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; 78:625–33.1994. Speer MC, Vance JM, Grubber JM, Lennon-Graham F, Stajich JM, Viles KD, Rogala A, McMichael R, Chutkow J, Goldsmith C, Tim RW, Pericak- Vance MA. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet; 64:556–62.1999. Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. A new form of autosomal dominant limbgirdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet; 13:264.2005. Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb girdle, Neuromuscular Disord; 13:532–44.2003.
*Correspondence:	Gisela Gaina, University of Bucharest, Molecular Biology Center, no. 91-95, Spl. Independentei, Bucharest 5, Romania, Tel +40-(21)-318 1575; 0040766600580, email: giselagaina@yahoo.com

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