Immunodetection analysis of muscular dystrophies in Mexico

被引：27

作者：

Gomez-Diaz, Benjamin ^{[3
]}

Rosas-Vargas, Haydee ^{[4
]}

Roque-Ramirez, Bladimir ^{[2
]}

Meza-Espinoza, Pedro ^{[4
]}

Ruano-Calderon, Luis A. ^{[5
]}

Fernandez-Valverde, Francisca ^{[6
]}

Escalante-Bautista, Deyanira ^{[2
]}

Escobar-Cedillo, Rosa E. ^{[7
]}

Sanchez-Chapul, Laura ^{[8
]}

Vargas-Canas, Steven ^{[6
]}

Lopez-Hernandez, Luz B. ^{[2
]}

Bahena-Martinez, Eliganty ^{[2
]}

Luna-Angulo, Alexandra B. ^{[4
]}

Canto, Patricia ^{[2
]}

Coral-Vazquez, Ramon M. ^{[1
]}

机构：

[1] Inst Politecn Nacl, Escuela Super Med, Secc Posgrad, Mexico City 11340, DF, Mexico

[2] ISSSTE, Ctr Med Nacl Noviembre 20, Subdirecc Ensenanza & Invest, Div Invest Biomed, Mexico City, DF, Mexico

[3] Secretaria Salud Mexico, Inst Nacl Rehabil, Dept Morfol Celular & Mol, Mexico City, DF, Mexico

[4] Hosp Pediat Mexico City, Ctr Med Nacl Siglo XXI IMSS, Unidad Invest Med Genet Humana, Mexico City, DF, Mexico

[5] Hosp Gen Durango, Durango, Mexico

[6] Inst Nacl Neurol & Neurocirugia Manuel Velasco Su, Dept Patol Expt, Mexico City, DF, Mexico

[7] Secretaria Salud Mexico, Inst Nacl Rehabil, Serv Electrodiagnost, Mexico City, DF, Mexico

[8] Secretaria Salud Mexico, Inst Nacl Rehabil, Lab Bioquim Muscular, Mexico City, DF, Mexico

来源：

MUSCLE & NERVE | 2012年 / 45卷 / 03期

关键词：

calpainopathies; dysferlinopathies; dystrophinopathies; immunofluorescence; muscular dystrophy; GIRDLE; DUCHENNE; GENE; MYOPATHIES; CAVEOLIN-3; EXPRESSION; PHENOTYPES; MUTATIONS; PATHOLOGY; PROTEINS;

D O I：

10.1002/mus.22314

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction: The muscular dystrophies (MDs) result from perturbations in the myofibers. These alterations are induced in part by mechanical stress due to membrane cell fragility, disturbances in mechanotransduction pathways, muscle cell physiology, and metabolism. Methods: We analyzed 290 biopsies of patients with a clinical diagnosis of muscular dystrophy. Using immunofluorescence staining, we searched for primary and secondary deficiencies of 12 different proteins, including membrane, costamere, cytoskeletal, and nuclear proteins. In addition, we analyzed calpain-3 by immunoblot. Results: We identified 212 patients with varying degrees of protein deficiencies, including dystrophin, sarcoglycans, dysferlin, caveolin-3, calpain-3, emerin, and merosin. Moreover, 78 biopsies showed normal expression of all investigated muscle proteins. The frequency rates of protein deficiencies were as follows: 52.36% dystrophinopathies; 18.40% dysferlinopathies; 14.15% sarcoglycanopathies; 11.32% calpainopathies; 1.89% merosinopathies; 1.42% caveolinopathies; and 0.47% emerinopathies. Deficiencies in lamin A/C and telethonin were not detected. Conclusion: We have described the frequency of common muscular dystrophies in Mexico. Muscle Nerve, 2012

引用

页码：338 / 345

页数：8

共 40 条

[1] Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis [J].

Almomani, Rowida ;

van der Stoep, Nienke ;

Bakker, Egbert ;

den Dunnen, Johan T. ;

Breuning, Martijn H. ;

Ginjaar, Ieke B. .

NEUROMUSCULAR DISORDERS, 2009, 19 (06) :383-390

[2] Early Onset Collagen VI Myopathies: Genetic and Clinical Correlations [J].

Brinas, Laura ;

Richard, Pascale ;

Quijano-Roy, Susana ;

Gartioux, Corine ;

Ledeuil, Celine ;

Lacene, Emmanuelle ;

Makri, Samira ;

Ferreiro, Ana ;

Maugenre, Svetlana ;

Topaloglu, Haluk ;

Haliloglu, Goknur ;

Penisson-Besnier, Isabelle ;

Jeannet, Pierre-Yves ;

Merlini, Luciano ;

Navarro, Carmen ;

Toutain, Annick ;

Chaigne, Denys ;

Desguerre, Isabelle ;

de Die-Smulders, Christine ;

Dunand, Murielle ;

Echenne, Bernard ;

Eymard, Bruno ;

Kuntzer, Thierry ;

Maincent, Kim ;

Mayer, Michele ;

Plessis, Ghislaine ;

Rivier, Francois ;

Roelens, Filip ;

Stojkovic, Tanya ;

Lia Taratuto, Ana ;

Lubieniecki, Fabiana ;

Monges, Soledad ;

Tranchant, Christine ;

Viollet, Louis ;

Romero, Norma B. ;

Estournet, Brigitte ;

Guicheney, Pascale ;

Allamand, Valerie .

ANNALS OF NEUROLOGY, 2010, 68 (04) :511-520

[3] The limb-girdle muscular dystrophies - Diagnostic strategies [J].

Bushby, Kate ;

Norwood, Fiona ;

Straub, Volker .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2007, 1772 (02) :238-242

[4] Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis [J].

Cooper, Sandra T. ;

Kizana, Eddy ;

Yates, Jonathon D. ;

Lo, Harriet P. ;

Yang, Nan ;

Wu, Zhan He ;

Alexander, Ian E. ;

North, Kathryn N. .

NEUROMUSCULAR DISORDERS, 2007, 17 (04) :276-284

[5] New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials [J].

Cossu, Giulio ;

Sampaolesi, Maurilio .

TRENDS IN MOLECULAR MEDICINE, 2007, 13 (12) :520-526

[6] Molecular mechanisms of muscular dystrophies: old and new players [J].

Davies, Kay E. ;

Nowak, Kristen J. .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2006, 7 (10) :762-773

[7] Pathophysiology of duchenne muscular dystrophy: Current hypotheses [J].

Deconinck, Nicolas ;

Dan, Bernard .

PEDIATRIC NEUROLOGY, 2007, 36 (01) :1-7

[8] The muscular dystrophies [J].

Emery, AEH .

LANCET, 2002, 359 (9307) :687-695

[9] Updates in muscular dystrophies [J].

Erazo-Torricelli, R .

REVISTA DE NEUROLOGIA, 2004, 39 (09) :860-871

[10] Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes [J].

Fanin, M. ;

Nascimbeni, A. C. ;

Aurino, S. ;

Tasca, E. ;

Pegoraro, E. ;

Nigro, V. ;

Angelini, C. .

NEUROLOGY, 2009, 72 (16) :1432-1435

← 1 2 3 4 →