Dominant-negative effects of a novel mutation in the filamin myopathy

Neurology

Volumn 75, Issue 6, 2010, Pages 547-554

  Kono, S ^a   Nishio, T ^a   Takahashi, Y ^a,b   Goto Inoue, N ^a   Kinoshita, M ^a   Zaima, N ^a   Suzuki, H ^a   Fukutoku Otsuji, A ^a,c   Setou, M ^a   Miyajima, H ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Enshu Hospital   (Japan)

^c National Hospital Organization   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DIMER; FILAMIN; FILAMIN C; UNCLASSIFIED DRUG; ACTIN BINDING PROTEIN; CONTRACTILE PROTEIN; FLNC PROTEIN, HUMAN;

ADULT; AGED; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; DIMERIZATION; DISEASE COURSE; DOMINANT INHERITANCE; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; JAPANESE; LIQUID CHROMATOGRAPHY; MALE; MOUSE; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYOBLAST; MYOFIBRILLAR MYOPATHY; MYOPATHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN CROSS LINKING; PROTEIN EXPRESSION; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; CELL LINE; COMPARATIVE STUDY; DOMINANT GENE; GENE DELETION; GENETICS; HETEROZYGOTE DETECTION; MIDDLE AGED; MOLECULAR GENETICS; MUSCULAR DISEASES; PATHOLOGY; PEDIGREE; PHENOTYPE; RETRACTED ARTICLE;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CONTRACTILE PROTEINS; FEMALE; FILAMINS; GENE DELETION; GENES, DOMINANT; HETEROZYGOTE DETECTION; HUMANS; MALE; MICE; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MYOBLASTS; PEDIGREE; PHENOTYPE;

EID: 77955433271     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181ec7fbd     Document Type: Article

References (31)

1. Engel AG. Myofibrillar myopathy. Ann Neurol 1999;46: 681-683.
2. Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004;127:439-451.
3. Selcen D. Myofibrillar myopathies. Curr Opin Neurol 2008;21:585-589.
4. Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-403.
5. Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivaku-mar K, Goldfarb LG. Desmin myopathy, a skeletal myop-athy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000;342:770-780. (Pubitemid 30151921)
6. Selcen D, Engel AG. Mutations in myotilin cause myofi-brillar myopathy. Neurology 2004;62:1363-1371.
7. Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005; 57:269-276.
8. Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-95.
9. Vorgerd M, van der Ven PF, Bruchertseifer V, et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005;77:297-304.
10. Selcen D, Muntoni F, Burton BK, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol 2009;65:83-89.
11. Stossel TP, Condeelis J, Cooley L, et al. Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol 2001;2:138-145.
12. Popowicz GM, Schleicher M, Noegel AA, Holak TA. Fil-amins: promiscuous organizers of the cytoskeleton. Trends Biochem Sci 2006;31:411-419.
13. Robertson SP, Twigg SR, Sutherland-Smith AJ, et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 2003;33:487-491.
14. Krakow D, Robertson SP, King LM, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet 2004; 36:405-410.
15. van der Ven PF, Wiesner S, Salmikangas P, et al. Indications for a novel muscular dystrophy pathway: gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. J Cell Biol 2000;151:235-248.
16. Faulkner G, Pallavicini A, Comelli A, et al. FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. J Biol Chem 2000;275:41234-41242.
17. Takada F, Vander Woude DL, Tong HQ, et al. Myoze-nin: an alpha-actinin-and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci USA 2001; 98:1595-1600.
18. Thompson TG, Chan YM, Hack AA, et al. Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. J Cell Biol 2000;148:115-126.
19. Himmel M, Van Der Ven PF, Stocklein W, Furst DO. The limits of promiscuity: isoform-specific dimerization of filamins. Biochemistry 2003;42:430-439.
20. Askanas V, Engel WK, Alvarez RB. Enhanced detection of congo-red-positive amyloid deposits in muscle fibers of inclusion body myositis and brain of Alzheimer's disease using fluorescence technique. Neurology 1993;43:1265-1267.
21. Goetsch SC, Martin CM, Embree LJ, Garry DJ. Myogenic progenitor cells express filamin C in developing and regenerating skeletal muscle. Stem Cells Dev 2005;14:181-187.
22. Dalkilic I, Schienda J, Thompson TG, Kunkel LM. Loss of Filamin C (FLNc) results in severe defects in myogen-esis and myotube structure. Mol Cell Biol 2006;26:6522-6534.
23. Kley RA, Hellenbroich Y, van der Ven PF, et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007;130:3250-3264.
24. Maestrini E, Patrosso C, Mancini 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 1993;2:761-766.
25. Xie Z, Xu W, Davie EW, Chung DW. Molecular cloning of human ABPL, an actin-binding protein homologue. Biochem Biophys Res Commun 1998;251:914-919.
26. Walter MC, Reilich P, Huebner A, et al. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain 2007;130:1485-1496.
27. Pudas R, Kiema TR, Butler PJ, Stewart M, Ylanne J. Structural basis for vertebrate filamin dimerization. Structure 2005;13:111-119.
28. Sjekloca L, Pudas R, Sjoblom B, et al. Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer. J Mol Biol 2007;368: 1011-1023.
29. Shatunov A, Olive M, Odgerel Z, et al. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet 2009;17:656-663.
30. Lowe T, Kley RA, van der Ven PF, et al. The pathomecha-nism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. Hum Mol Genet 2007;16:1351-1358.
31. Chiang W, Greaser ML, Lyons GE. Filamin isogene expression during mouse myogenesis. Dev Dyn 2000;217: 99-108.