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SGCD  -  sarcoglycan, delta (35kDa dystrophin...

Homo sapiens

Synonyms: 35 kDa dystrophin-associated glycoprotein, 35DAG, CMD1L, DAGD, Delta-SG, ...
 
 
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Disease relevance of SGCD

 

High impact information on SGCD

 

Biological context of SGCD

 

Anatomical context of SGCD

  • Mutations affecting the secondary structure were identified in one family and two sporadic cases, whereas immunofluorescence analysis of myocardium from one of these patients demonstrated significant reduction in delta-sarcoglycan staining [11].
  • With regard to our unclassified AR LGMD families, analysis of the affected sibs from one of them (family LG61) revealed some clinical and laboratory findings (early involvement of the distal muscles, mildly elevated serum CK levels, and rimmed vacuoles in muscle biopsies) that usually are not observed in the analysis of patients with LGMD2A-LGMD2F [12].
  • Instead of placement at the plasma membrane, delta-sarcoglycan was found in the nucleus of S151A delta-sarcoglycan cardiomyocytes [3].
  • We demonstrated that in striated muscle the genetic defect leads to the complete deficiency of delta-sarcoglycan and a concomitant loss of alpha-, beta-, and gamma-sarcoglycan [13].
  • Using co-immunoprecipitation assays, we demonstrated that beta- and delta-sarcoglycan interact with alpha-sarcoglycan and these two subunits must be co-expressed for export from the endoplasmic reticulum [14].
 

Associations of SGCD with chemical compounds

 

Other interactions of SGCD

  • In particular, sarcospan was absent in a gamma-sarcoglycanopathy patient with normal levels of alpha-, beta- and delta-sarcoglycan [17].
  • We have developed fluorescent genetic markers bracketing six of these loci (LGMD2A-LGMD2F) [18].
  • To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin [19].
  • The LGMD2B patient had a moderate clinical expression, whereas the LGMD2F case was truly benign [20].
  • Pathogenetic mutations involving one gene for sarcoglycan complex components were identified in 13 patients: alpha-sarcoglycan in seven, beta-sarcoglycan in two, gamma-sarcoglycan in four, and none in the delta-sarcoglycan gene [21].
 

Analytical, diagnostic and therapeutic context of SGCD

References

  1. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nigro, V., de Sá Moreira, E., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A.A., Passos-Bueno, M.R., Zatz, M. Nat. Genet. (1996) [Pubmed]
  2. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Duggan, D.J., Manchester, D., Stears, K.P., Mathews, D.J., Hart, C., Hoffman, E.P. Neurogenetics (1997) [Pubmed]
  3. Nuclear sequestration of {delta}-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. Heydemann, A., Demonbreun, A., Hadhazy, M., Earley, J.U., McNally, E.M. Hum. Mol. Genet. (2007) [Pubmed]
  4. Strain- and age-dependent loss of sarcoglycan complex in cardiomyopathic hamster hearts and its re-expression by delta-sarcoglycan gene transfer in vivo. Kawada, T., Nakatsuru, Y., Sakamoto, A., Koizumi, T., Shin, W.S., Okai-Matsuo, Y., Suzuki, J., Uehara, Y., Nakazawa, M., Sato, H., Ishikawa, T., Toyo-oka, T. FEBS Lett. (1999) [Pubmed]
  5. Limb-girdle muscular dystrophy 2C: clinical aspects. Ben Hamida, M., Ben Hamida, C., Zouari, M., Belal, S., Hentati, F. Neuromuscul. Disord. (1996) [Pubmed]
  6. Mutations in the sarcoglycan genes in patients with myopathy. Duggan, D.J., Gorospe, J.R., Fanin, M., Hoffman, E.P., Angelini, C. N. Engl. J. Med. (1997) [Pubmed]
  7. Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. Holt, K.H., Lim, L.E., Straub, V., Venzke, D.P., Duclos, F., Anderson, R.D., Davidson, B.L., Campbell, K.P. Mol. Cell (1998) [Pubmed]
  8. A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. Moreira, E.S., Vainzof, M., Marie, S.K., Nigro, V., Zatz, M., Passos-Bueno, M.R. J. Med. Genet. (1998) [Pubmed]
  9. A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein. Gouveia, T.L., Kossugue, P.M., Paim, J.F., Zatz, M., Anderson, L.V., Nigro, V., Vainzof, M. J. Mol. Med. (2007) [Pubmed]
  10. The canine sarcoglycan delta gene: BAC clone contig assembly, chromosome assignment and interrogation as a candidate gene for dilated cardiomyopathy in Dobermann dogs. Stabej, P., Leegwater, P.A., Imholz, S., Versteeg, S.A., Zijlstra, C., Stokhof, A.A., Domanjko-Petriè, A., van Oost, B.A. Cytogenet. Genome Res. (2005) [Pubmed]
  11. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. Tsubata, S., Bowles, K.R., Vatta, M., Zintz, C., Titus, J., Muhonen, L., Bowles, N.E., Towbin, J.A. J. Clin. Invest. (2000) [Pubmed]
  12. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Moreira, E.S., Vainzof, M., Marie, S.K., Sertié, A.L., Zatz, M., Passos-Bueno, M.R. Am. J. Hum. Genet. (1997) [Pubmed]
  13. Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Straub, V., Duclos, F., Venzke, D.P., Lee, J.C., Cutshall, S., Leveille, C.J., Campbell, K.P. Am. J. Pathol. (1998) [Pubmed]
  14. The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane. Draviam, R.A., Shand, S.H., Watkins, S.C. Muscle Nerve (2006) [Pubmed]
  15. Ultrastructure of diaphragm from dystrophic alpha-sarcoglycan-null mice. Jakubiec-Puka, A., Biral, D., Krawczyk, K., Betto, R. Acta Biochim. Pol. (2005) [Pubmed]
  16. {alpha}-Linolenic Acid-Enriched Diet Prevents Myocardial Damage and Expands Longevity in Cardiomyopathic Hamsters. Fiaccavento, R., Carotenuto, F., Minieri, M., Masuelli, L., Vecchini, A., Bei, R., Modesti, A., Binaglia, L., Fusco, A., Bertoli, A., Forte, G., Carosella, L., Di Nardo, P. Am. J. Pathol. (2006) [Pubmed]
  17. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Crosbie, R.H., Lim, L.E., Moore, S.A., Hirano, M., Hays, A.P., Maybaum, S.W., Collin, H., Dovico, S.A., Stolle, C.A., Fardeau, M., Tomé, F.M., Campbell, K.P. Hum. Mol. Genet. (2000) [Pubmed]
  18. A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. Richard, I., Bourg, N., Marchand, S., Alibert, O., Eymard, B., van der Kooi, A.J., Jackson, C.E., Garcia, C., Burgunder, J.M., Legum, C., de Visser, M., Fardeau, M., Beckmann, J.S. Neuromuscul. Disord. (1999) [Pubmed]
  19. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Vainzof, M., Passos-Bueno, M.R., Canovas, M., Moreira, E.S., Pavanello, R.C., Marie, S.K., Anderson, L.V., Bonnemann, C.G., McNally, E.M., Nigro, V., Kunkel, L.M., Zatz, M. Hum. Mol. Genet. (1996) [Pubmed]
  20. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Dinçer, P., Leturcq, F., Richard, I., Piccolo, F., Yalnizoglu, D., de Toma, C., Akçören, Z., Broux, O., Deburgrave, N., Brenguier, L., Roudaut, C., Urtizberea, J.A., Jung, D., Tan, E., Jeanpierre, M., Campbell, K.P., Kaplan, J.C., Beckmann, J.S., Topaloglu, H. Ann. Neurol. (1997) [Pubmed]
  21. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. Fanin, M., Duggan, D.J., Mostacciuolo, M.L., Martinello, F., Freda, M.P., Sorarù, G., Trevisan, C.P., Hoffman, E.P., Angelini, C. J. Med. Genet. (1997) [Pubmed]
  22. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A.A., Papparella, S., Rossi, E., Viglietto, G., Esposito, M.G., Abbondanza, C., Medici, N., Molinari, A.M., Nigro, G., Puca, G.A. Hum. Mol. Genet. (1996) [Pubmed]
  23. rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. Li, J., Dressman, D., Tsao, Y.P., Sakamoto, A., Hoffman, E.P., Xiao, X. Gene Ther. (1999) [Pubmed]
  24. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Bushby, K., Anderson, L.V., Pollitt, C., Naom, I., Muntoni, F., Bindoff, L. Brain (1998) [Pubmed]
  25. Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyo-oka, T., Hanaoka, F. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
 
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