Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV

Human Molecular Genetics

Volumn 20, Issue 22, 2011, Pages 4430-4439

  Akman, H Orhan ^a   Sheiko, Tatiana ^a   Tay, Stacey K H ^b   Finegold, Milton J ^a   DiMauro, Salvatore ^c   Craigen, William J ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c NewYork Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; GLYCOGEN; PHOSPHOGLYCERATE KINASE; POLYGLUCOSAN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; ENZYME SYNTHESIS; EXON; GENE DELETION; GENE MUTATION; GLYCOGEN ANALYSIS; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 4; HOMOLOGOUS RECOMBINATION; INTRON; LIVER; MOUSE; NEUROMUSCULAR DISEASE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; ANIMALS; DISEASE MODELS, ANIMAL; GLUCANS; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE IV; MICE;

MUS;

EID: 80054941952     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr371     Document Type: Article

References (33)

1. Andersen, D.H. (1956) Familial cirrhosis of the liver with storage of abnormal glycogen. Lab. Invest., 5, 11-20.
2. Suzuki, K., David, E. and Kutschman, B. (1971) Presenile dementia with 'Lafora-like' intraneuronal inclusions. Arch. Neurol., 25, 69-80.
3. Cafferty, M.S., Lovelace, R.E., Hays, A.P., Servidei, S., Dimauro, S. and Rowland, L.P. (1991) Polyglucosan body disease. Muscle Nerve, 14, 102-107.
4. Gray, F., Gherardi, R., Marshall, A., Janota, I. and Poirier, J. (1988) Adult polyglucosan body disease (APBD). J. Neuropathol. Exp. Neurol., 47, 459-474.
5. McDonald, T.D., Faust, P.L., Bruno, C., DiMauro, S. and Goldman, J.E. (1993) Polyglucosan body disease simulating amyotrophic lateral sclerosis. Neurology, 43, 785-790.
6. Peress, N.S., DiMauro, S. and Roxburgh, V.A. (1979) Adult polysaccharidosis. Clinicopathological, ultrastructural, and biochemical features. Arch. Neurol., 36, 840-845.
7. Robitaille, Y., Carpenter, S., Karpati, G. and DiMauro, S.D. (1980) A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing. Brain, 103, 315-336.
8. Robertson, N.P., Wharton, S., Anderson, J. and Scolding, N.J. (1998) Adult polyglucosan body disease associated with an extrapyramidal syndrome. J. Neurol. Neurosurg. Psychiatry, 65, 788-790.
9. Ban, H.R., Kim, K.M., Jang, J.Y., Kim, G.H., You, H.W., Kim, K., Yu, E., Kim, D.Y., Kim, K.H., Lee, Y.J. et al. (2009) Living donor liver transplantation in a Korean child with glycogen storage disease type IV and a GBE1 mutation. Gut. Liver, 3, 60-63.
10. Fyfe, J.C., Giger, U., Van Winkle, T.J., Haskins, M.E., Steinberg, S.A., Wang, P. and Patterson, D.F. (1992) Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats. Pediatr. Res., 32, 719-725.
11. Valberg, S.J., Ward, T.L., Rush, B., Kinde, H., Hiraragi, H., Nahey, D., Fyfe, J. and Mickelson, J.R. (2001) Glycogen branching enzyme deficiency in quarter horse foals. J. Vet. Intern. Med., 15, 572-580.
12. Bruno, C., van Diggelen, O.P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M.A., Introvini, P., Alegria, A., Assereto, S., Morandi, L. et al. (2004) Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology, 63, 1053-1058.
13. Lee, Y.C., Chang, C.J., Bali, D., Chen, Y.T. and Yan, Y.T. (2010) Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. Hum. Mol. Genet., 20, 455-465.
14. Tay, S.K., Akman, H.O., Chung, W.K., Pike, M.G., Muntoni, F., Hays, A.P., Shanske, S., Valberg, S.J., Mickelson, J.R., Tanji, K. et al. (2004) Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul. Disord., 14, 253-260.
15. Abel, T.J., Hebb, A.O., Keene, C.D., Born, D.E. and Silbergeld, D.L. (2010) Parahippocampal corpora amylacea: case report. Neurosurgery, 66, E1206-E1207.
16. Taratuto, A.L., Akman, H.O., Saccoliti, M., Riudavets, M., Arakaki, N., Mesa, L., Sevlever, G., Goebel, H. and Dimauro, S. (2010) Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. Neuromuscul. Disord., 20, 783-790.
17. Baskaran, S., Roach, P.J., DePaoli-Roach, A.A. and Hurley, T.D. (2010) Structural basis for glucose-6-phosphate activation of glycogen synthase. Proc. Natl Acad. Sci. USA, 107, 17563-17568.
18. McCue, M.E., Valberg, S.J., Miller, M.B., Wade, C., DiMauro, S., Akman, H.O. and Mickelson, J.R. (2008) Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics, 91, 458-466.
19. Pederson, B.A., Schroeder, J.M., Parker, G.E., Smith, M.W., DePaoli-Roach, A.A. and Roach, P.J. (2005) Glucose metabolism in mice lacking muscle glycogen synthase. Diabetes, 54, 3466-3473.
20. Irimia, J.M., Meyer, C.M., Peper, C.L., Zhai, L., Bock, C.B., Previs, S.F., McGuinness, O.P., DePaoli-Roach, A. and Roach, P.J. (2010) Impaired glucose tolerance and predisposition to the fasted state in liver glycogen synthase knock-out mice. J. Biol. Chem., 285, 12851-12861.
21. Bao, Y., Kishnani, P., Wu, J.Y. and Chen, Y.T. (1996) Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest., 97, 941-948.
22. Ubogu, E.E., Hong, S.T., Akman, H.O., Dimauro, S., Katirji, B., Preston, D.C. and Shapiro, B.E. (2005) Adult polyglucosan body disease: a case report of a manifesting heterozygote. Muscle Nerve, 32, 675-681.
23. David, J.P., Ghozali, F., Fallet-Bianco, C., Wattez, A., Delaine, S., Boniface, B., Di Menza, C. and Delacourte, A. (1997) Glial reaction in the hippocampal formation is highly correlated with aging in human brain. Neurosci. Lett., 235, 53-56.
24. Hansen, L.A., Armstrong, D.M. and Terry, R.D. (1987) An immunohistochemical quantification of fibrous astrocytes in the aging human cerebral cortex. Neurobiol. Aging, 8, 1-6.
25. Kohama, S.G., Goss, J.R., Finch, C.E. and McNeill, T.H. (1995) Increases of glial fibrillary acidic protein in the aging female mouse brain. Neurobiol. Aging, 16, 59-67.
26. Wierzba-Bobrowicz, T., Lewandowska, E., Stepien, T. and Modzelewska, J. (2008) Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease. Folia Neuropathol., 46, 165-175.
27. Ianzano, L., Zhang, J., Chan, E.M., Zhao, X.C., Lohi, H., Scherer, S.W. and Minassian, B.A. (2005) Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. Hum. Mutat., 26, 397.
28. Chan,E.M.,Omer, S.,Ahmed,M.,Bridges,L.R.,Bennett,C., Scherer, S.W. and Minassian, B.A. (2004) Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. Neurology, 63, 565-567.
29. Minassian, B.A., Lee, J.R., Herbrick, J.A., Huizenga, J., Soder, S., Mungall, A.J., Dunham, I., Gardner, R., Fong, C.Y., Carpenter, S. et al. (1998) Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat. Genet., 20, 171-174.
30. Ganesh, S., Delgado-Escueta, A.V., Sakamoto, T., Avila, M.R., Machado-Salas, J., Hoshii, Y., Akagi, T., Gomi, H., Suzuki, T., Amano, K. et al. (2002) Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum. Mol. Genet., 11, 1251-1262.
31. Ianzano, L., Young, E.J., Zhao, X.C., Chan, E.M., Rodriguez, M.T., Torrado, M.V., Scherer, S.W. and Minassian, B.A. (2004) Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. Hum. Mutat., 23, 170-176.
32. Tagliabracci, V.S. and Roach, P.J. (2010) Insights into the mechanism of polysaccharide dephosphorylation by a glucan phosphatase. Proc. Natl Acad. Sci. USA, 107, 15312-15313.
33. Pederson, B.A., Chen, H., Schroeder, J.M., Shou, W., DePaoli-Roach, A.A. and Roach, P.J. (2004) Abnormal cardiac development in the absence of heart glycogen. Mol. Cell Biol., 24, 7179-7187.