Genetic manipulation of dysferlin expression in skeletal muscle: Novel insights into muscular dystrophy

American Journal of Pathology

Volumn 175, Issue 5, 2009, Pages 1817-1823

  Millay, Douglas P ^a   Maillet, Marjorie ^a   Roche, Joseph A ^b   Sargent, Michelle A ^a,c   McNally, Elizabeth M ^d   Bloch, Robert J ^b   Molkentin, Jeffery D ^a,c  

^a UNIVERSITY OF CINCINNATI   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL INFILTRATION; CONTROLLED STUDY; FEMALE; GENETIC MANIPULATION; HISTOPATHOLOGY; MALE; MOUSE; MUSCLE CONTRACTION; MUSCLE FUNCTION; MUSCULAR DYSTROPHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SKELETAL MUSCLE; TRANSGENICS;

EID: 73649134314     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2009.090107     Document Type: Article

References (23)

1. Durbeej M, Campbell KP: Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. Curr Opin Genet Dev 2002, 12:349-361
2. Lapidos KA, Kakkar R, McNally EM: The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res 2004, 94:1023-1031
3. Laval SH, Bushby KM: Limb-girdle muscular dystrophies-from genetics to molecular pathology. Neuropathol Appl Neurobiol 2004, 30:91-105
4. Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP: Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003, 423:168-172
5. Han R, Bansal D, Miyake K, Muniz VP, Weiss RM, McNeil PL, Campbell KP: Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury. J Clin Invest 2007, 117:1805-1813
6. Selcen D, Stilling G, Engel AG: The earliest pathologic alterations in dysferlinopathy. Neurology 2001, 56:1472-1481
7. Confalonieri P, Oliva L, Andreetta F, Lorenzoni R, Dassi P, Mariani E, Morandi L, Mora M, Cornelio F, Mantegazza R: Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. J Neuroimmunol 2003, 142:130-136
8. Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RH Jr, Illa I: Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001, 57:2136-2138
9. Kesari A, Fukuda M, Knoblach S, Bashir R, Nader GA, Rao D, Nagaraju K, Hoffman EP: Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset. Am J Pathol 2008, 173:1476-1487
10. Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, Hoffman EP: Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol 2008, 172:774-785
11. De Luna N, Freixas A, Gallano P, Caselles L, Rojas-Garcia R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, Vilchez JJ, Marquez C, Bautista J, Guerrero A, Salazar JA, Pou A, Illa I, Gallardo E: Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord 2007, 17:69-76
12. Ho M, Post CM, Donahue LR, Lidov HG, Bronson RT, Goolsby H, Watkins SC, Cox GA, Brown RH Jr: Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet 2004, 13:1999-2010
13. Millay DP, Sargent MA, Osinska H, Baines CP, Barton ER, Vuagniaux G, Sweeney HL, Robbins J, Molkentin JD: Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat Med 2008, 14:442-447
14. Roche JA, Lovering RM, Bloch RJ: Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivo. NeuroReport 2008, 19:1579-1584
15. Brennan KJ, Hardeman EC: Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice. J Biol Chem 1993, 268:719-725
16. Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KM: Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999, 8:855-861
17. Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LV, Straub V, Deelder A, Frants RR, den Dunnen JT, Bushby K, van der Maarel SM: AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J 2007, 21:732-742
18. Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr: Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 2003, 278:50466-50473
19. McNeil AK, Rescher U, Gerke V, McNeil PL: Requirement for annexin A1 in plasma membrane repair. J Biol Chem 2006, 281:35202-35207
20. Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M, Takeshima H, Ma J: Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J Biol Chem 2009, 284:15894-15902
21. Ampong BN, Imamura M, Matsumiya T, Yoshida M, Takeda S: Intracellular localization of dysferlin and its association with the dihydropyridine receptor. Acta Myol 2005, 24:134-144
22. Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM: Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 2000, 10:553-559
23. Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, Hayashi YK: Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. J Neuropathol Exp Neurol 2005, 64:334-340