α-Sarcoglycan (adhalin) deficiency: Complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations

Journal of the Neurological Sciences

Volumn 140, Issue 1-2, 1996, Pages 30-39

  Duggan, David J ^a   Fanin, Marina ^b   Pegoraro, Elena ^a   Angelini, Corrado ^b   Hoffman, Eric P ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Adhalin; Dystrophin; Membrane cytoskeleton; Muscular dystrophy; sarcoglycan

Indexed keywords

DYSTROPHIN; MESSENGER RNA;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOLECULAR BIOLOGY; MUSCULAR DYSTROPHY; MUTATION; PRIORITY JOURNAL;

EID: 0030248268     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(96)00028-7     Document Type: Article

References (36)

1. Ahn, A.H., Yoshida, M., Anderson, M.D.S., Feener, C.A., Selig, S., Hagiwara, Y., Ozawa, E. and Kunkel, L.M. (1994) Cloning of human basic Al, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc. Natl. Acad. Sci. USA, 91: 4446-4450.
2. Azibi, K., Bachner, L., Beckmann, J.S., Matsumura, K., Hamouda, E., Chaouch, M., Chaouch, A., Ait-Ouarab, R., Vignal, A., Weissenbach, J., Vinet, M.C., Leturcq. F., Collin, H., Tome, F.M.S., Reghis, A., Fardeau, M., Campbell, K.P. and Kaplan, J.-C. (1993) Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum. Mol. Genet., 2: 1423-1428.
3. Ben Othmane, K., Ben Hamida, M., Pericak-Vance, M.A., Ben Hamida, C., Blel, S., Carter, S.C., Bowcock. A.M., Petruhkin, K., Gilliam, C., Roses, A.D., Hentati, F. and Vance, J.M. (1992) Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet., 2: 315-317.
4. Bonnemann, C.G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E.M., Duggan, D.J., Angelini, C., Hoffman, E.P., Ozawa, E. and Kunkel, L.M. (1995) β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet., 11: 266-272.
5. Devereaux, J., Haeberli, P. and Smithies, O. (1984) A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res., 12: 387-395.
6. Emery, A.E.H., Duchenne Muscular Dystrophy. Oxford University Press, New York, NY. 1993, pp. 91-97.
7. Ervasti, J.M., Ohlendieck, K., Kahl, S.D., Gaver, M.G. and Campbell, K.P. (1990) Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature, 345: 315-319.
8. Griggs, R.C., Mendell, J.R. and Miller, R.G. Evaluation and Treatment of Myopathies. FA Davies, Philadelphia, PA, 1995, pp. 128-131.
9. Hayashi, Y.K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E. and Arahata, K. (1995) The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. Neurology, 45: 551-554.
10. Hoffman, E.P., Brown, R.H. and Kunkel, L.M. (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell, 51: 919-928.
11. Hoffman, E.P., Fischbeck, K.H., Brown, R.H., Johnson, M., Medori, R., Loike, J.D., Harris, J.B., Waterston, R., Brooke, M., Specht, L., Kupsky, W., Chamberlain, J., Caskey, C.T., Shapiro, F. and Kunkel, L.M. (1988) Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N. Engl. J. Med., 318: 1363-1368.
12. Hoffman, E.P., Kunkel, L.M., Angelini, C., Clarke, A., Johnson, M. and Harris, J.B. (1989) Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology, 39: 1011-1917.
13. Hoffman, E.P., Arahata, K., Minettie, C., Bonilla, E., Rowland, L.P., Angelini, C., Arikawa, E., Baba, C., Barkhaus, P.E., Bauserman, S.C., Butler, I.J., Cook, J.D., Chutkow, J.G., Cordone, G., Evans, O.B., Garcia, C., Gilchrist, J.M., Glasberg, M., Hamada, K., Ishihara, T., Ishikawa, N., Johnsen, S.D., Kamakura, K., Kikumoto, O., Kinoshita, M., Kumagai, K., Marks, H., Marks, W., Maytal, J., Moggio, M., Moser, E., Nigro, M.A., Noll, W., Nonaka, I., Prelle, A., Reyes, M.G., Ricci, E., Roses, A.D., Sakuta, R., Satoyoshi, E., Servidei, S., Smith, A., Steele, M., Subramony, S.H., Sunohara, N., Wang, J.Z., Wessel, H.B., Yanagawa, T., Munsat, T., Hausmanowa-Petrusewicz, I. and Sugita, H. (1992) Dystrophinopathy in isolated cases of myopathy in females. Neurology, 42: 967-975.
14. Hoffman, E.P., The muscular dystrophies. In: Molecular and Genetic Basis of Neurologic Disease. Rosenberg, R.N., Prusiner, S.B., Di-Mauro, S. and Barchi, R.L. (Eds.) Butterworth Heinemann, Newton, MA, in press
15. Ibraghimov-Beskrovnaya, O., Milatovich, A., Ozcelik, T., Yang, B., Koepnick, K., Francke, U. and Campbell, K.P. (1993) Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum. Mol. Genet., 2: 1651-1657.
16. Koenig, M. and Kunkel, L.M. (1990) Detailed analysis of the repeat domain of dystrophin reveals 4 potential hinge regions that may confer flexibility. J. Biol. Chem., 265: 4560-4566.
17. Lim, L.E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, F.M.S., Fardeau, M., Jackson, C.E., Beckmann, J.S. and Campbell, K.P. (1995) δ-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet., 11: 257-265.
18. Ljunggren, A., Duggan. D.J., McNally, E., Boylan, K., Gama, C.H., Kunkel, L.M. and Hoffman, E.P. (1995) Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann. Neurol., 38: 367-372.
19. Matsumura, K., Tome, F.M.S., Collin, H., Azibi, K., Chaouch, M., Kaplan, J-C., Fardeau, M. and Campbell, K.P. (1992) Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature, 359: 320-322.
20. Matsumura, K., Nonaka, I. and Campbell, K.P. (1993) Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet, 341: 521-522.
21. McNally, E.M., Yoshida, M., Mizuno, Y., Ozawa, E. and Kunkel, L.M. (1994) Human adhalin is alternately spliced and the gene is located on chromosome 17q21. Proc. Natl. Acad. Sci. USA, 91: 9690-9694.
22. Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16: 1215.
23. Mizuno, Y., Yoshida, M., Nonaka, I., Hirai, S. and Ozawa, O. (1994) Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins from patients with Duchenne muscular dystrophy. Muscle Nerve, 17: 206-216.
24. Nicholson, L.V.B., Davison, K., Falkous, G., Harwood, C., O'Donnell, E., Slater, C.R. and Harris, J.B. (1989) Dystrophin in skeletal muscle. I. Western blot analysis using monoclonal antibody. J. Neurol. Sci., 94: 125-136.
25. Noguchi, S., McNally, E.M., Ben Othmane, K., Hagiwara, Y., Mizuno Y., Yoshida, M., Yamamoto H., Bonnemann, C.G., Gussoni, E., Denton, P.H., Kyriakides, T., Middleton, L., Hentati, F., Ben Hamida, M., Nonaka, I., Vance, J.M., Kunkel, L.M. and Ozawa, E. (1995) Mutations in the dystrophin-associated protein γ-sarcoglycan in chromsome 13 muscular dystrophy. Science. 270: 819-822.
26. Ohlendieck, K., Matsumura, K., Ionasescu, V.V., Towbin, J.A., Bosch, E.P., Weinstein, S.L., Sernett, S.W. and Campbell, K.P. (1993) Duchenne muscular dystrophy: deficiency of dystrophin-associated glycoproteins in the sarcolemma. Neurology, 43: 795-800.
27. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics, 5: 874-879.
28. Ozawa, E., Yoshida, M., Suzuki, A., Mizuno, Y., Hagiwara, Y. and Noguchi, S. (1995) Dystrophin-associated proteins in muscular dystrophy. Hum. Mol. Genet., 4: 1711-1716.
29. Passos-Bueno, M.R., Oliveira, J.R., Bakker, E., Anderson, R.D., Marie, S.K., Vainzof, M., Roberds, S., Campbell, K.P. and Zatz, M. (1993) Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum. Mol. Genet., 2: 1945-1947.
30. Pegoraro, E., Schimke, R.N., Garcia, C., Stern, H., Cadaldini, M., Angelini, C., Barbosa, E., Carroll, J.C., Marks, W.A., Neville, H.E., Marks, H., Appleton, S., Toriello, H., Wessel, H.B., Donnelly, J., Johnson, P.C., Taber, J.W., Weiss, L. and Hoffman, E.P. (1995) Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin-competent myonuclei. Neurology, 45: 677-690.
31. Piccolo, F., Roberds, S.L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrie, A., Recan, D., Chaouch, M., Reghis, A., El Kerch, F., Sefiani, A., Voit, T., Merlini, L., Collin, H., Eymard, B., Beckmann, J.S., Romero, N.B., Tome, F.M.S., Fardeau, M., Campbell, K.P. and Kaplan, J.-C. (1995) Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet., 19: 243-245.
32. Roberds, S.L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R.D., Lim, L.F., Lee, J.C., Tome, F.M.S., Romero, N.B., Fardeau, M., Beckmann, J.S., Kaplan, J.-C. and Campbell, K.P. (1994) Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell, 78: 625-633.
33. Romero, N.B., Tome, F.M.S., Leturcq. F., Kerch, F.E., Azibi, K., Bachner, L., Anderson, R.D., Roberds, S.L., Campbell, K.P., Fardeau, M. and Kaplan, J.-C. (1994) Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. C. R. Acad. Sci. (Paris), 317: 70-76.
34. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor. NY.
35. Tinsley, J.M., Blake, D.J., Zuellig, R.A. and Davies, K.E. (1994) Increasing complexity of the dystrophin-associated protein complex. Proc. Natl. Acad. Sci. USA. 91: 8307-8313.
36. Yoshida, M., Suzuki, A., Yamamoto, H., Noguchi, S., Mizuno, Y. and Ozawa, E. (1994) Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside. Eur. J. Biochem., 22: 1055-1061.