Molecular and muscle pathology in a series of caveolinopathy patients

Human Mutation

Volumn 25, Issue 1, 2005, Pages 82-89

  Fulizio, Luigi ^a,b   Nascimbeni, Anna Chiara ^a,b   Fanin, Marina ^a,b   Piluso, Giulio ^c   Politano, Luisa ^c   Nigro, Vincenzo ^c   Angelini, Corrado ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

CAV3; Caveolin 3; Caveolinopathy; LGMD1C; Limb girdle muscular dystrophy; Muscle pathology

Indexed keywords

CAVEOLIN 3;

ADOLESCENT; ADULT; ANTIBODY LABELING; ARTICLE; CAVEOLINOPATHY; CLINICAL ARTICLE; DISEASE MARKER; FEMALE; GENE MUTATION; GOLGI COMPLEX; HISTOPATHOLOGY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD;

ADOLESCENT; ADULT; CAVEOLAE; CAVEOLIN 3; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; GOLGI APPARATUS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE;

EID: 11344273900     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20119     Document Type: Article

References (26)

1. Betz RC, Schoser BGH, Kasper D, Ricker K, Ramirez A, Valentin S, Torbergsen T, Lee YA, Nothen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C. 2001. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 28:218-219.
2. Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, Ciscato P, Fagiolari G, Bonato S, Galbiati S, Corti S, Lamperti C, Moggio M, Comi GP. 2003. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Neurology 61:1513-1519.
3. Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Dagna Bricarelli F, Cordone G, Lisanti MP, Minetti C. 2000. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 54:1373-1376.
4. De Paula F, Vainzof M, Bernardino ALF, McNally E, Kunkel LM, Zatz M. 2001. Mutations in the caveolin-3 gene: when are they pathogenic? Am J Med Genet 99:303-307.
5. Fanin M, Nascimbeni AC, Fulizio L, Trevisan CP, Meznaric-Petrusa M, Angelini C. 2003. Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Am J Pathol 163:1929-1936.
6. Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Levy N, Pellissier JF. 2003. Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. Neurology 61:562-564.
7. Fischer D, Schroers A, Blumcke I, Urbach H, Zerres K, Mortier W, Vorgerd M, Schroder R. 2003. Consequences of a novel caveolin-3 mutation in a large German family. Ann Neurol 53:233-241.
8. Galbiati F, Razani B, Lisanti MP. 2001. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med 7:435-441.
9. Galbiati F, Volontè D, Minetti C, Chu JB, Lisanti MP. 1999. Phenotypic behaviour of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD1C). J Biol Chem 274:25632-25641.
10. Galbiati F, Volontè D, Minetti C, Bregman DB, Lisanti MP. 2000. Limb girdle muscular dystrophy (LGMD1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. J Biol Chem 275:37702-37711.
11. Hayashi T, Arimura T, Ueda K, Shibat H, Hohda S, Takahasi M, Hori H, Koga Y, Oka N, Imaizumi T, Yasunami M, Kimura A. 2004. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Comm 313:178-184.
12. Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Neuen Jacob E, Lenard HG, Kroger S, Voit T. 2000. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet 9:2335-2340.
13. Herrmann RH, Hertel S, Kutzick C, Straub V Voit T. 2002. A novel caveolin-3 mutation in autosomal dominant rippling muscle disease. Neuromuscul Disord 12:723.
14. Kubisch C, Schoser BG, von During M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmuller H, Schroder JM, Bruning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. 2003. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann Neurol 53:512-520.
15. McNally EM, de Sa Moreira E, Duggan DJ, Bonnemann CG, Lisanti MP, Lidov HGW, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM. 1998. Caveolin-3 in muscular dystrophy. Hum Mol Genet 7:871-877.
16. Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volontè D, Galbiati F, Cordone G, Dagna Bricarelli F, Lisanti MP, Zara F. 1998. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 18:365-368.
17. Minetti C, Bado M, Broda P, Sotgia F, Bruno C, Galbiati F, Volontè D, Lucania G, Pavan A, Bonilla E, Lisanti MP, Cordone G. 2002. Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. Am J Pathol 160:265-270.
18. Parton RG, Way M, Zorzi N, Stang E. 1997. Caveolin-3 associates with developing T-tubules during muscle differentiation. J Cell Biol 136:137-154.
19. Scherer PE, Lisanti P, Baldini G, Sargiacomo M, Mastick CC, Lodish HF. 1994. Introduction of caveolin during adipogenesis and association of GLUT-4 with caveolin rich vesicles. J Cell Biol 127:1233-1243.
20. Smart EJ, Graf G, McNiven M, Sessa W, Engelman J, Scherer PE, Okamoto T, Lisanti M. 1999. Caveolins, liquid-ordered domains and signal transduction. Mol Cell Biol 19:7289-7304.
21. Song KS, Scherer PE, Tang Z, Okamoto T, Li S, Chafel M, Chu C, Kohtz DS, Lisanti MP. 1996. Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. J Biol Chem 271:15160-15165.
22. Tang Z, Scherer PE, Okamoto T, Song K, Chu C, Kohtz DS, Nishimoto I, Lodish HF, Lisanti MP. 1996. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. J Biol Chem 271:2255-2261.
23. Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyoma Y. 2002. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology 58:323-325.
24. Venema VJ, Ju H, Zou R, Venema RC. 1997. Interaction of neuronal nitric oxide synthetase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain. J Biol Chem 63:28187-28190.
25. Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, Kubisch C, Schoser BGH, Mortier W. 2001. A sporadic case of rippling muscle disease caused by a de-novo caveolin-3 mutation. Neurology 57:2273-2277.
26. Wyse BD, Prior IA, Quian H, Morrow IC, Nixon S, Muncke C, Kurzchalia TV, Thomas WG, Parton RG, Hancock JF. 2003. Caveolin interacts with the angiotensin II type 1 receptor during exocytic transport but not at the plasma membrane. J Biol Chem 278:23738-23746.