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SGCE  -  sarcoglycan, epsilon

Homo sapiens

Synonyms: DYT11, ESG, Epsilon-SG, Epsilon-sarcoglycan, UNQ433/PRO840
 
 
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Disease relevance of SGCE

  • Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles [1].
  • Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE) [2].
  • These included 72 controls (C), 659 early and suspect open angle glaucoma (ESG) with perimetric mean defect (MD) lower than 6 dB, and 242 confirmed moderate and advanced glaucomas (AG) with perimetric MD >/=6 dB [3].
 

Psychiatry related information on SGCE

 

High impact information on SGCE

  • Loss of imprinting in the patient with M-D who had biallelic expression of the SGCE gene was associated with partial loss of methylation at several CpG dinucleotides [2].
  • In addition, we identified differentially methylated regions in the promoter region of the SGCE gene as a characteristic feature of imprinted genes [2].
  • SGCE missense mutations that cause myoclonus-dystonia syndrome impair {varepsilon}-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA [5].
  • These data demonstrate that some MDS-associated mutations in SGCE impair trafficking of the mutant protein to the plasma membrane and suggest a role for torsinA and the ubiquitin proteasome system in the recognition and processing of misfolded epsilon-sarcoglycan [5].
  • SGCE is a maternally imprinted gene with the disease being inherited in an autosomal dominant pattern with reduced penetrance upon maternal transmission [5].
 

Biological context of SGCE

  • Suitable mutation negative families were tested for linkage to the SGCE region and to chromosome 18p11 [6].
  • To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia [7].
  • SGCE exon dosage assays may identify additional families with SGCE mutation and thus reduce "genetic heterogeneity."[8]
  • The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia [9].
  • All coding exons of the SGCE gene were analysed [10].
 

Anatomical context of SGCE

 

Associations of SGCE with chemical compounds

  • RESULTS: Distinct truncating mutations in the SGCE gene were identified in each family [14].
  • Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family) [14].
 

Other interactions of SGCE

  • PEG10 is located near the SGCE (Sarcoglycan epsilon) gene, whose mouse homologue was recently shown to be imprinted [15].
  • Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia [7].
  • As differential methylated regions (DMRs) are a characteristic feature of imprinted genes, we studied the methylation pattern of CpG dinucleotides within the CpG island containing the promoter region and the first exon of the SGCE gene by bisulphite genomic sequencing [11].
  • Additionally, we observed an increment in the protein levels of epsilon-SG, beta-DG, UTR and cav-1 after mechanical stretching [16].
 

Analytical, diagnostic and therapeutic context of SGCE

References

  1. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Müller-Myhsok, B., Riedel, L., Bauer, M., Müller, T., Castro, M., Meitinger, T., Strom, T.M., Gasser, T. Nat. Genet. (2001) [Pubmed]
  2. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Müller, B., Hedrich, K., Kock, N., Dragasevic, N., Svetel, M., Garrels, J., Landt, O., Nitschke, M., Pramstaller, P.P., Reik, W., Schwinger, E., Sperner, J., Ozelius, L., Kostic, V., Klein, C. Am. J. Hum. Genet. (2002) [Pubmed]
  3. Optic disc tomography and perimetry in controls, glaucoma suspects, and early and established glaucomas. DE LA Rosa, M.G., Gonzalez-Hernandez, M., Lozano-Lopez, V., Mendez, M.S., DE LA Vega, R.R. Optometry and vision science : official publication of the American Academy of Optometry (2007) [Pubmed]
  4. Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. de Carvalho Aguiar, P., Fazzari, M., Jankovic, J., Ozelius, L.J. Mov. Disord. (2004) [Pubmed]
  5. SGCE missense mutations that cause myoclonus-dystonia syndrome impair {varepsilon}-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Esapa, C.T., Waite, A., Locke, M., Benson, M.A., Kraus, M., McIlhinney, R.A., Sillitoe, R.V., Beesley, P.W., Blake, D.J. Hum. Mol. Genet. (2007) [Pubmed]
  6. Genetic heterogeneity in ten families with myoclonus-dystonia. Schüle, B., Kock, N., Svetel, M., Dragasevic, N., Hedrich, K., De Carvalho Aguiar, P., Liu, L., Kabakci, K., Garrels, J., Meyer, E.M., Berisavac, I., Schwinger, E., Kramer, P.L., Ozelius, L.J., Klein, C., Kostic, V. J. Neurol. Neurosurg. Psychiatr. (2004) [Pubmed]
  7. Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Grundmann, K., Laubis-Herrmann, U., Dressler, D., Vollmer-Haase, J., Bauer, P., Stuhrmann, M., Schulte, T., Schöls, L., Topka, H., Riess, O. Mov. Disord. (2004) [Pubmed]
  8. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Asmus, F., Salih, F., Hjermind, L.E., Ostergaard, K., Munz, M., Kühn, A.A., Dupont, E., Kupsch, A., Gasser, T. Ann. Neurol. (2005) [Pubmed]
  9. Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. Valente, E.M., Misbahuddin, A., Brancati, F., Placzek, M.R., Garavaglia, B., Salvi, S., Nemeth, A., Shaw-Smith, C., Nardocci, N., Bentivoglio, A.R., Berardelli, A., Eleopra, R., Dallapiccola, B., Warner, T.T. Mov. Disord. (2003) [Pubmed]
  10. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. Tezenas du Montcel, S., Clot, F., Vidailhet, M., Roze, E., Damier, P., Jedynak, C.P., Camuzat, A., Lagueny, A., Vercueil, L., Doummar, D., Guyant-Maréchal, L., Houeto, J.L., Ponsot, G., Thobois, S., Cournelle, M.A., Durr, A., Durif, F., Echenne, B., Hannequin, D., Tranchant, C., Brice, A. J. Med. Genet. (2006) [Pubmed]
  11. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Grabowski, M., Zimprich, A., Lorenz-Depiereux, B., Kalscheuer, V., Asmus, F., Gasser, T., Meitinger, T., Strom, T.M. Eur. J. Hum. Genet. (2003) [Pubmed]
  12. Deep brain stimulation in myoclonus-dystonia syndrome. Cif, L., Valente, E.M., Hemm, S., Coubes, C., Vayssiere, N., Serrat, S., Di Giorgio, A., Coubes, P. Mov. Disord. (2004) [Pubmed]
  13. Expression analysis of the SG-SSPN complex in smooth muscle and endothelial cells of human umbilical cord vessels. Ramírez-Sánchez, I., Rosas-Vargas, H., Ceballos-Reyes, G., Salamanca, F., Coral-Vázquez, R.M. J. Vasc. Res. (2005) [Pubmed]
  14. Phenotypic features of myoclonus-dystonia in three kindreds. Doheny, D.O., Brin, M.F., Morrison, C.E., Smith, C.J., Walker, R.H., Abbasi, S., Müller, B., Garrels, J., Liu, L., De Carvalho Aguiar, P., Schilling, K., Kramer, P., De Leon, D., Raymond, D., Saunders-Pullman, R., Klein, C., Bressman, S.B., Schmand, B., Tijssen, M.A., Ozelius, L.J., Silverman, J.M. Neurology (2002) [Pubmed]
  15. A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21. Ono, R., Kobayashi, S., Wagatsuma, H., Aisaka, K., Kohda, T., Kaneko-Ishino, T., Ishino, F. Genomics (2001) [Pubmed]
  16. Expression and function of utrophin associated protein complex in stretched endothelial cells: dissociation and activation of eNOS. Ramirez-Sanchez, I., Ceballos-Reyes, G., Rosas-Vargas, H., Cerecedo-Mercado, D., Zentella-Dehesa, A., Salamanca, F., Coral-Vazquez, R.M. Front. Biosci. (2007) [Pubmed]
  17. Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. DeBerardinis, R.J., Conforto, D., Russell, K., Kaplan, J., Kollros, P.R., Zackai, E.H., Emanuel, B.S. Am. J. Med. Genet. A (2003) [Pubmed]
 
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