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MeSH Review

Lafora Disease

 
 
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Disease relevance of Lafora Disease

 

High impact information on Lafora Disease

  • We previously discovered that mutations in EPM2A cause Lafora disease [3].
  • Lafora disease (LD) is a fatal and the most common form of adolescent-onset progressive epilepsy [4].
  • Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation [5].
  • These findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism [2].
  • Skin biopsies of three patients with Lafora disease (clinically typical and proven by liver biopsy) showed PAS-positive inclusions in numerous peripheral cells of eccrine sweat ducts [6].
 

Chemical compound and disease context of Lafora Disease

 

Biological context of Lafora Disease

 

Gene context of Lafora Disease

  • The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain [12].
  • Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin [13].
  • Substitution of Trp32 in the CBD by Gly, a mutation found in a patient, caused only a 30% decrease in laforin activity but abolished binding to and inhibition by glycogen, indicating that impaired glycogen binding is sufficient to cause Lafora disease [14].
  • 3. Using three highly polymorphic DNA markers (D21S212, PFKL, and D21S171) which flank the EPM1 locus, we performed linkage analysis to investigate whether or not the EPM1 gene is also implicated in Lafora disease [15].
  • Lafora disease, a progressive myoclonus epilepsy, is an autosomal recessive disease caused in approximately 80% of cases by mutation of the EPM2A gene, which encodes a dual specificity protein phosphatase called laforin [14].
 

Analytical, diagnostic and therapeutic context of Lafora Disease

  • The EEG early in Lafora disease has spike-wave activity resembling that seen in a primary generalized epilepsy; the background slowing is more typical of a secondary generalized epilepsy [16].

References

  1. "Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Eldridge, R., Iivanainen, M., Stern, R., Koerber, T., Wilder, B.J. Lancet (1983) [Pubmed]
  2. A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Serratosa, J.M., Gómez-Garre, P., Gallardo, M.E., Anta, B., de Bernabé, D.B., Lindhout, D., Augustijn, P.B., Tassinari, C.A., Malafosse, R.M., Topcu, M., Grid, D., Dravet, C., Berkovic, S.F., de Córdoba, S.R. Hum. Mol. Genet. (1999) [Pubmed]
  3. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan, E.M., Young, E.J., Ianzano, L., Munteanu, I., Zhao, X., Christopoulos, C.C., Avanzini, G., Elia, M., Ackerley, C.A., Jovic, N.J., Bohlega, S., Andermann, E., Rouleau, G.A., Delgado-Escueta, A.V., Minassian, B.A., Scherer, S.W. Nat. Genet. (2003) [Pubmed]
  4. Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Chan, E.M., Ackerley, C.A., Lohi, H., Ianzano, L., Cortez, M.A., Shannon, P., Scherer, S.W., Minassian, B.A. Hum. Mol. Genet. (2004) [Pubmed]
  5. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. Fernández-Sánchez, M.E., Criado-García, O., Heath, K.E., García-Fojeda, B., Medraño-Fernández, I., Gomez-Garre, P., Sanz, P., Serratosa, J.M., Rodríguez de Córdoba, S. Hum. Mol. Genet. (2003) [Pubmed]
  6. Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Carpenter, S., Karpati, G. Neurology (1981) [Pubmed]
  7. Pyruvate metabolism in Lafora disease. Busard, H.L., Renier, W.O., Gabreëls, F.J., Trijbels, J.M., Janssen, A.J., Lamers, K.J. Epilepsia (1989) [Pubmed]
  8. Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. Pranzatelli, M.R., Tate, E., Huang, Y., Haas, R.H., Bodensteiner, J., Ashwal, S., Franz, D. Epilepsia (1995) [Pubmed]
  9. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. Gómez-Garre, P., Sanz, Y., Rodríguez De Córdoba, S.R., Serratosa, J.M. Eur. J. Hum. Genet. (2000) [Pubmed]
  10. Long-term observations of two siblings with Lafora disease treated with zonisamide. Yoshimura, I., Kaneko, S., Yoshimura, N., Murakami, T. Epilepsy Res. (2001) [Pubmed]
  11. Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies. Ben-Menachem, E., Kyllerman, M., Marklund, S. Epilepsy Res. (2000) [Pubmed]
  12. The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Ganesh, S., Tsurutani, N., Suzuki, T., Ueda, K., Agarwala, K.L., Osada, H., Delgado-Escueta, A.V., Yamakawa, K. Hum. Mol. Genet. (2003) [Pubmed]
  13. Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. Gentry, M.S., Worby, C.A., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  14. Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase. Wang, W., Roach, P.J. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  15. Lafora disease is not linked to the Unverricht-Lundborg locus. Labauge, P., Beck, C., Bellet, H., Coquillat, G., Vespignani, H., Dulac, O., Gilgenkrantz, S., Dravet, C., Genton, P., Pellissier, J.F. Am. J. Med. Genet. (1995) [Pubmed]
  16. Longitudinal EEG studies in a kindred with Lafora disease. Yen, C., Beydoun, A., Drury, I. Epilepsia (1991) [Pubmed]
 
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