Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1638, Issue 1, 2003, Pages 57-62

  Sabatelli, Patrizia ^a   Columbaro, Marta ^b   Mura, Isabella ^b   Capanni, Cristina ^b   Lattanzi, Giovanna ^a   Maraldi, Nadir M ^a,b   Beltràn Valero De Barnabè, Daniel ^c   Van Bokoven, Hans ^c   Squarzoni, Stefano ^a   Merlini, Luciano ^a  

^a CNR   (Italy)

^b RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Basal lamina; Chromatin; Glycosylation; Walker Warburg syndrome; Dystroglycan

Indexed keywords

DYSTROGLYCAN; EPITOPE; LAMININ; MANNOSYLTRANSFERASE; PERLECAN;

APOPTOSIS; ARTICLE; BASEMENT MEMBRANE; BRAIN MALFORMATION; CELL MEMBRANE; CELL NUCLEUS; CELL NUCLEUS MEMBRANE; ELECTRON MICROSCOPY; EXTRACELLULAR MATRIX; EYE DISEASE; FRAMESHIFT MUTATION; GENE MUTATION; GLYCOSYLATION; HETEROCHROMATIN; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE BIOPSY; MUSCLE CELL; MUSCULAR DYSTROPHY; PATHOGENESIS; PERIPHERAL NERVE; PRIORITY JOURNAL; SATELLITE CELL; SKELETAL MUSCLE; WALKER WARBURG SYNDROME;

EID: 12444303308     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(03)00040-1     Document Type: Article

References (34)

1. Aravind L., Koonin E.V. The fukutin protein family - predicted enzymes modifying cell-surface molecules. Curr. Biol. 9:1999;836-837.
2. Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., Inazu T., Mitsuhashi H., Takahashi S., Takeuchi M., Herrman R., Straub V., Talim B., Voit T., Topalogu H., Toda T., Endo T. Muscular dystrophy and neuronal migration disorder caused by mutation in a glycolsyltransferase, POMGnT1. Dev. Cell. 1:2001;717-724.
3. Beltran-Valero De Bernabe D., Currier S., Steinbrecher A., Celli J., Van Beusekom E., Van Der Zwaag B., Kayserili H., Merlini L., Chitayat D., Dobyns W.B., Cormand V., Lehesjoki A.E., Cruces J., Voit T., Walsh C.A., Van Bokhoven H., Brunner H.G. Mutations in the O-gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71:2002;1033-1043.
4. Jurado L.A., Coloma A., Cruces J. Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1. Genomics. 58:1999;171-180.
5. Spence H.J., Chen Y.J., Winder S.J. Muscular dystrophies, the cytoskeleton and cell adhesion. BioEssays. 24:2002;542-552.
6. Winder S.J. The complexities of dystroglycan. Trends Biochem. Sci. 26:2001;118-124.
7. Colognato H., Yurchenco P.D. The laminin alpha2 expressed by dystrophic dy(2J) mice is defective in its ability to form polymers. Curr. Biol. 9:1999;1327-1330.
8. Hayashi Y.K., Chou F.L., Engvall E., Ogawa M., Matsuda C., Hirabayashi S., Yokochi K., Ziober B.L., Kramer R.H., Kaufman S.J., Ozawa E., Goto Y., Nonaka I., Tsukahara T., Wang J.Z., Hoffman E.P., Arahata K. Mutations in the integrin alpha7 gene cause congenital myopathy. Nat. Genet. 19:1998;94-97.
9. Ervasti J.M., Campbell K.P. Membrane organization of the dystrophin-glycoprotein complex. Cell. 66:1991;1121-1131.
10. Durbeej M., Talts J.F., Henry M.D., Yurchenco P.D., Campbell K.P., Ekblom P. Dystroglycan binding to laminin alpha1LG4 module influences epithelial morphogenesis of salivary gland and lung in vitro. Differentiation. 69:2001;121-134.
11. Brockington M., Blake D.J., Prandini P., Brown S.C., Torelli S., Benson M.A., Ponting C.P., Estournet B., Romero N.B., Mercuri E., Voit T., Sewry C.A., Guicheney P., Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am. J. Hum. Genet. 69:2001;1198-1209.
12. Brockington M., Yuva Y., Prandini P., Brown S.C., Torelli S., Benson M.A., Herrmann R., Anderson L.V., Bashir R., Burgunder J.M., Fallet S., Romero N., Fardeau M., Straub V., Storey G., Pollitt C., Richard I., Sewry C.A., Bushby K., Voit T., Blake D.J., Muntoni F. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Mol. Genet. 10:2001;2851-2859.
13. Kano H., Kobayashi K., Herrmann R., Tachikawa M., Manya H., Nishino I., Nonaka I., Straub V., Talim B., Voit T., Topaloglu H., Endo T., Yoshikawa H., Toda T. Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Biochem. Biophys. Res. Commun. 291:2002;1283-1286.
14. Hayashi Y.K., Ogawa M., Tagawa K., Noguchi S., Ishihara T., Nonaka I., Arahata K. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology. 57:2001;115-121.
15. Holzfeind P.J., Grewal P.K., Reitsamer H.A., Kechvar J., Lassmann H., Hoeger H., Hewitt J.E., Bittner R.E. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders. Hum. Mol. Genet. 11:2002;2673-2687.
16. Michele D.E., Barresi R., Kanagawa M., Saito F., Cohn R.D., Satz J.S., Dollar J., Nishino I., Kelley R.I., Somer H., Straub V., Mathews K.D., Moore S.A., Campbell K.P. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 418:2002;417-422.
17. Matsubara S., Mizuno Y., Kitaguchi T., Isozaki E., Miyamoto K., Hirai S. Fukuyama-type congenital muscular dystrophy: close relation between changes in the muscle basal lamina and plasma membrane. Neuromuscul. Disord. 9:1999;388-398.
18. Villanova M., Sabatelli P., He Y., Malandrini A., Petrini S., Maraldi N.M., Merlini L. Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. Acta Neuropathol. (Berl.). 96:1998;651-654.
19. Muntoni F., Brockington M., Blake D.J., Torelli S., Brown S.C. Defective glycosylation in muscular dystrophy. Lancet. 360:2002;1419-1421.
20. Leschziner A., Moukhles H., Lindenbaum M., Gee S.H., Butterworth J., Campbell K.P., Carbonetto S.J. Neural regulation of alpha-dystroglycan biosynthesis and glycosylation in skeletal muscle. Neurochemistry. 74:2000;70-80.
21. Carpenter S., Karpati G. Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired. Brain. 102:1979;146-147.
22. Vajsar J., Ackerley C., Chitayat D., Becker L.E. Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. Pediatr. Neurol. 22:2000;139-143.
23. Colognato H., Winkelmann D.A., Yurchenco P.D. Laminin polymerization induces a receptor-cytoskeleton network. J. Cell Biol. 145:1999;619-631.
24. Minetti C., Bado M., Morreale G., Pedemonte M., Cordone G. Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. Neurology. 46:1996;1354-1358.
25. Cote P.D., Moukhles H., Carbonetto S. Dystroglycan is not required for localization of dystrophin, syntrophin, and neuronal nitric-oxide synthase at the sarcolemma but regulates integrin alpha 7B expression and caveolin-3 distribution. J. Biol. Chem. 277:2002;4672-4679.
26. Fadic R., Waclawik A.J., Lewandoski P.J., Lotz B.P. Muscle pathology and clinical features of the sarcolemmopathies. Pediatr. Neurol. 16:1997;79-82.
27. Tidball J.G., Albrecht D.E., Lokensgard B.E., Spencer M.J. Apoptosis precedes necrosis of dystrophin-deficient muscle. J. Cell Sci. 108:1995;2197-2204.
28. Hack A.A., Ly C.T., Jiang F., Clendenin C.J., Sigrist K.S., Wollmann R.L., McNally E.M. Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin. J. Cell Biol. 142:1998;1279-1287.
29. Mukasa T., Momoi T., Momoi M.Y. Activation of caspase-3 apoptotic pathways in skeletal muscle fibers in laminin alpha2-deficient mice. Biochem. Biophys. Res. Commun. 260:1999;139-142.
30. Rupar C.A., Rip J.W., Chaudhary N., Carroll K.K. The subcellular localization of enzymes of dolichol metabolism in rat liver. J. Biol. Chem. 257:1982;3090-3094.
31. Berthillier G., Got R. Evidence of the mannosylation of a non-histone protein in monkey liver chromatin. Mol. Cell. Biochem. 44:1982;39-43.
32. Comer F.I., Hart G.W. O-GlcNAc and the control of gene expression. Biochim. Biophys. Acta. 1473:1999;161-171.
33. Miller M.W., Caracciolo M.R., Berlin W.K., Hanover J.A. Phosphorylation and glycosylation of nucleoporins. Arch. Biochem. Biophys. 367:1999;51-60.
34. Vosseller K., Wells L., Hart G.W. Nucleocytoplasmic O-glycosylation: O-GlcNAc and functional proteomics. Biochimie. 83:2001;575-581.