Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

Journal of the Neurological Sciences

Volumn 206, Issue 1, 2003, Pages 71-78

  Bonnemann C G ^a,b,i   Thompson, T G ^c   Van der Ven, P F M ^d   Goebel, H H ^e   Warlo, I ^e   Vollmers, B ^b   Reimann, J ^f   Herms, J ^g   Gautel, M ^h   Takada, F ^c   Beggs, A H ^c   Furst D O ^d   Kunkel, L M ^c   Hanefeld, F ^b   Schroder R ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF POTSDAM   (Germany)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

^f UNIVERSITY HOSPITAL BONN   (Germany)

^g UNIVERSITY OF MUNICH   (Germany)

^h KING'S COLLEGE LONDON   (United Kingdom)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

B crystallin; Central core disease; Congenital myopathies; Cores; Filamin C; Multi minicore disease; Target formations

Indexed keywords

ALPHA CRYSTALLIN; ANTIBODY; DESMIN; FILAMIN;

ARTICLE; CENTRONUCLEAR MYOPATHY; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; MUSCLE ATROPHY; MUSCLE BIOPSY; MYOPATHY; NEUROLOGIC DISEASE; PRIORITY JOURNAL;

BIOLOGICAL MARKERS; BIOPSY; CARRIER PROTEINS; CONTRACTILE PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; MICROFILAMENT PROTEINS; MICROSCOPY, IMMUNOELECTRON; MUSCLE, SKELETAL; MUSCULAR DISEASES; PROTEIN ISOFORMS; REFERENCE VALUES;

EID: 0037437618     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(02)00341-6     Document Type: Article

References (51)

1. Dubowitz V., Brooke M.H. Muscle biopsy: a modern approach. 1973;Saunders, London.
2. Dubowitz V. Pathological changes in muscle biopsies. Muscle biopsy: a practical approach. 1985;86-90 Baillière Tindall, Eastbourne.
3. Fardeau M., Tomé F.M. Congenital myopathies: multicore disease. Engel A.G., Franzini-Armstrong C. Myology. 1994;1505-1507 McGraw-Hill, New York.
4. Shy G.M., Magee K.R. A new congenital nonprogressive myopathy. Brain. 79:1956;610-621.
5. Engel A.G., Gomez M.R. Congenital myopathy associated with multifocal degeneration of muscle fibers. Trans. Am. Neurol. Ass. 91:1966;222-223.
6. Engel A.G., Gomez M.R., Groover R.V. Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. Mayo Clin. Proc. 46:1971;666-681.
7. Engel W.K. Muscle target fibers, a newly recognized sign of denervation. Nature. 191:1961;389.
8. Schotland D.L. An electron microscopic study of target fibers, target-like fibers and related abnormalities in human muscle. J. Neuropathol. Exp. Neurol. 28:1969;214-228.
9. De Reuck J., De Coster W., van der Eecken H. The target phenomenon in rat muscle following tenotomy and neurotomy. A comparative light microscopic and histochemical study. Acta Neuropathol. 37:1977;49-53.
10. Vita G., Migliorato A., Baradello A., Mazzeo A., Rodolico C., Falsaperla R.et al. Expression of cytoskeleton proteins in central core disease. J. Neurol. Sci. 124:1994;71-76.
11. De Bleecker J.L., Ertl B.B., Engel A.G. Patterns of abnormal protein expression in target formations and unstructured cores. Neuromuscul. Disord. 6:1996;339-349.
12. Banwell B.L., Engel A.G. AlphaB-crystallin immunolocalization yields new insights into inclusion body myositis. Neurology. 54:2000;1033-1041.
13. Hock R.S., Condeelis J.S. Isolation of a 240-kilodalton actin-binding protein from Dictyostelium discoideum. J. Biol. Chem. 262:1987;394-400.
14. van der Flier A., Sonnenberg A. Structural and functional aspects of filamins. Biochim. Biophys. Acta. 1538:2001;99-117.
15. Sharma C.P., Ezzell R.M., Arnaout M.A. Direct interaction of filamin (ABP-280) with the beta 2-integrin subunit CD18. J. Immunol. 154:1995;3461-3470.
16. Pfaff M., Liu S., Erle D.J., Ginsberg M.H. Integrin beta cytoplasmic domains differentially bind to cytoskeletal proteins. J. Biol. Chem. 273:1998;6104-6109.
17. Loo D.T., Kanner S.B., Aruffo A. Filamin binds to the cytoplasmic domain of the beta1-integrin. Identification of amino acids responsible for this interaction. J. Biol. Chem. 273:1998;23304-23312.
18. Stahlhut M., van Deurs B. Identification of filamin as a novel ligand for caveolin-1: evidence for the organization of caveolin-1-associated membrane domains by the actin cytoskeleton. Mol. Biol. Cell. 11:2000;325-337.
19. Liu G., Thomas L., Warren R.A., Enns C.A., Cunningham C.C., Hartwig J.H.et al. Cytoskeletal protein ABP-280 directs the intracellular trafficking of furin and modulates proprotein processing in the endocytic pathway. J. Cell Biol. 139:1997;1719-1733.
20. Zhang W., Han S.W., McKeel D.W., Goate A., Wu J.Y. Interaction of presenilins with the filamin family of actin-binding proteins. J. Neurosci. 18:1998;914-922.
21. Marti A., Luo Z., Cunningham C., Ohta Y., Hartwig J., Stossel T.P.et al. Actin-binding protein-280 binds the stress-activated protein kinase (SAPK) activator SEK-1 and is required for tumor necrosis factor-alpha activation of SAPK in melanoma cells. J. Biol. Chem. 272:1997;2620-2628.
22. Mittal B., Sanger J.M., Sanger J.W. Binding and distribution of fluorescently labeled filamin in permeabilized and living cells. Cell Motil. Cytoskelet. 8:1987;345-359.
23. Small J.V., Fürst D.O., De Mey J. Localization of filamin in smooth muscle. J. Cell Biol. 102:1986;210-220.
24. Fox J.W., Lamperti E.D., Eksioglu Y.Z., Hong S.E., Feng Y., Graham D.A.et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 21:1998;1315-1325.
25. Hock R.S. Filamin. Kreis T., Vale R. Guidebook to the cytoskeletal and motor proteins. 1999;94-97 Oxford Univ. Press, Oxford, UK.
26. Maestrini E., Patrosso C., Mancini M., Rivella S., Rocchi M., Repetto M.et al. Mapping of two genes encoding isoforms of the actin-binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Hum. Mol. Genet. 2:1993;761-766.
27. Thompson T.G., Chan Y.M., Hack A.A., Brosius M., Rajala M., Lidov H.G.et al. Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. J. Cell Biol. 148:2000;115-126.
28. van der Ven P.F., Wiesner S., Salmikangas P., Auerbach D., Himmel M., Kempa S.et al. Indications for a novel muscular dystrophy pathway. Gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. J. Cell Biol. 151:2000;235-248.
29. Takada F., Vander Woude D.L., Tong H.Q., Thompson T.G., Watkins S.C., Kunkel L.M.et al. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc. Natl. Acad. Sci. U. S. A. 98:2001;1595-1600.
30. Faulkner G., Pallavicini A., Comelli A., Salamon M., Bortoletto G., Ievolella C.et al. FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. J. Biol. Chem. 275:2000;41234-41242.
31. Ferreiro A., Estournet B., Chateau D., Romero N.B., Laroche C., Odent S.et al. Multi-minicore disease - searching for boundaries: phenotype analysis of 38 cases. Ann. Neurol. 48:2000;745-757.
32. Jungbluth H., Sewry C., Brown S.C., Manzur A.Y., Mercuri E., Bushby K.et al. Minicore myopathy in children: a clinical and histopathological study of 19 cases. Neuromuscul. Disord. 10:2000;264-273.
33. Fardeau M., Tomé F.M. Congenital myopathies. Engel A.G., Franzini-Armstrong C. Myology. 1994;1487-1532 McGraw-Hill, New York.
34. Chan Y., Tong H.Q., Beggs A.H., Kunkel L.M. Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochem. Biophys. Res. Commun. 248:1998;134-139.
35. Mues A., van der Ven P.F., Young P., Fürst D.O., Gautel M. Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin. FEBS Lett. 428:1998;111-114.
36. Bönnemann C.G., Wong J., Jones K., Lidov H.G.W., Feener C.A., Shapiro F.et al. Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum and diagnostic value of the immunohistochemical profile. Neuromuscul. Disord. 12:2002;273-280.
37. Schröder R., Mundegar R.R., Treusch M., Schlegel U., Blümcke I., Owaribe K.et al. Altered distribution of plectin/HD1 in dystrophinopathies. Eur. J. Cell Biol. 74:1997;165-171.
38. Goebel H.H., Piirsoo A., Warlo I., Schofer O., Kehr S., Gaude M. Infantile intranuclear rod myopathy. J. Child Neurol. 12:1997;22-30.
39. van der Ven P.F., Obermann W.M., Lemke B., Gautel M., Weber K., Fürst D.O. Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. Cell Motil. Cytoskelet. 45:2000;149-162.
40. Zhang Y., Chen H.S., Khanna V.K., De Leon S., Phillips M.S., Schappert K.et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat. Genet. 5:1993;46-50.
41. Monnier N., Romero N.B., Lerale J., Landrieu P., Nivoche Y., Fardeau M.et al. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum. Mol. Genet. 10:2001;2581-2592.
42. Fischer D., Matten J., Reimann J., Bönnemann C., Schröder R. Expression, localization and functional divergence of alpha-B-crystallin and heat-shock protein 27 in core myopathies and neurogenic atrophy. Acta Neuropathol. 104:2002;297-304.
43. Iwaki T., Kume-Iwaki A., Liem R.K., Goldman J.E. Alpha B-crystallin is expressed in nonlenticular tissues and accumulates in Alexander's disease brain. Cell. 57:1989;71-78.
44. Messing A., Head M.W., Galles K., Galbreath E.J., Goldman J.E., Brenner M. Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. Am. J. Pathol. 152:1998;391-398.
45. van Noort J.M., van Sechel A.C., Bajramovic J.J., el Ouagmiri M., Polman C.H., Lassmann H.et al. The small heat-shock protein alpha B-crystallin as candidate autoantigen in multiple sclerosis. Nature. 375:1995;798-801.
46. Vicart P., Caron A., Guicheney P., Li Z., Prevost M.C., Faure A.et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat. Genet. 20:1998;92-95.
47. Goebel H.H., Warlo I.A. Progress in desmin-related myopathies. J. Child Neurol. 15:2000;565-572.
48. Iwaki T., Iwaki A., Goldman J.E. Alpha B-crystallin in oxidative muscle fibers and its accumulation in ragged-red fibers: a comparative immunohistochemical and histochemical study in human skeletal muscle. Acta Neuropathol. 85:1993;475-480.
49. Goldfarb L.G., Park K.Y., Cervenakova L., Gorokhova S., Lee H.S., Vasconcelos O.et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat. Genet. 19:1998;402-403.
50. Horwitz J. Alpha-crystallin can function as a molecular chaperone. Proc. Natl. Acad. Sci. U. S. A. 89:1992;10449-10453.
51. Benjamin I.J., McMillan D.R. Stress (heat-shock) proteins: molecular chaperones in cardiovascular biology and disease. Circ. Res. 83:1998;117-132.