Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 176-180

  Zano, Stephen ^a   Malik, Radhika ^a,c   Szucs, Sylvia ^b   Matalon, Reuben ^b   Viola, Ronald E ^a  

^a UNIVERSITY OF TOLEDO   (United States)

^b University of Texas Medical Branch School of Medicine   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Animal model; Aspartoacylase; Canavan disease; Enzyme replacement therapy; PEGylation

Indexed keywords

ASPARTOACYLASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN FUNCTION; CANAVAN DISEASE; CLONE; CONTROLLED STUDY; DRUG MEGADOSE; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; LOW DRUG DOSE; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; TREATMENT RESPONSE;

AMIDOHYDROLASES; ANIMALS; CANAVAN DISEASE; DISEASE MODELS, ANIMAL; DRUG CARRIERS; ENZYME REPLACEMENT THERAPY; ENZYME STABILITY; FEMALE; HUMANS; MALE; MICE; MICE, KNOCKOUT; MODELS, MOLECULAR; POLYETHYLENE GLYCOLS; PROTEIN STRUCTURE, TERTIARY; TREATMENT OUTCOME;

ANIMALIA; MUS;

EID: 78651419742     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.10.012     Document Type: Article

References (28)

1. Canavan M.M. Schindler's Encephalitis Periaxialis Diffusa. Arch. Neurol. Psychiat. 1931, 25:299-308.
2. van Bogaert L., Bertrand L. Sur une idiotie familiale avec degenerescence spongieuse du nevraxe. Acta Neurosci. Psychiatry Belg. 1949, 49:572-585.
3. Gordon N. Canavan disease: a review of recent developments. Eur. J. Paediatr. Neurol. 2001, 5:65-69.
4. Matalon R., Michals-Matalon K., Sebesta M., Deanching M., Gashkoff P., Casanova J. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am. J. Med. Genet. 1988, 29:463-471.
5. Matalon R., Michals-Matalon K. Recent advances in Canavan disease. Advis. Pediatr. 1999, 46:493-506.
6. Matalon R., Michals K., Kaul R. Canavan disease: from spongy degeneration to molecular analysis. J. Pediatr. 1995, 127:511-517.
7. Sistermans E.A., de Coo R.F., van Beerendonk H.M., Poll-The B.T., Kleijer W.J., van Oost B.A. Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. Eur. J. Hum. Genet. 2000, 8:557-560.
8. Mehta V., Namboodiri M.A. N-Acetylaspartate as an acetyl source in the nervous system. Mol. Brain Res. 1995, 31:151-157.
9. Chakraborty G., Mekala P., Yahya D., Wu G., Ledeen R.W. Intraneuronal N-acetylaspartate supplies acetyl groups for myelin lipid synthesis: evidence for myelin-associated aspartoacylase. J. Neurochem. 2001, 78:736-745.
10. D'Adamo A.F., Gidez L.I., Yatsu F.M. Acetyl transport mechanisms. Involvement of N-acetyl aspartic acid in de novo fatty acid biosynthesis in the developing rat brain. Exp. Brain Res. 1968, 5:267-273.
11. D'Adamo A.F., Yatsu F.M. Acetate metabolism in the nervous system. N-acetyl-L-aspartic acid and the biosynthesis of brain lipids. J. Neurochem. 1966, 13:961-965.
12. Hugg J.W., Laxer K.D., Matson G.B., Maudsley A.A., Weiner M.W. Neuron loss localizes human temporal lobe epilepsy by in vivo proton magnetic resonance. Ann. Neurol. 1993, 34:788-794.
13. Richards T.L. Proton MR spectroscopy in multiple sclerosis: value in establishing diagnosis, monitoring progression, and evaluating therapy. Am. J. Neuroradiol. 1991, 157:1073-1078.
14. Plaitakis A., Constantakakis E. Altered metabolism of excitatory amino acids, N-acetyl-aspartate and N-acetyl-aspartyl-glutamate in myotrophic lateral sclerosis. Brain Res. Bull. 1993, 30:381-386.
15. Klunk W.E., Moossy J., McClure R.J., Pettegrew J.W. N-acetyl-l-aspartate and other amino acid metabolites in Alzheimer's disease brain. Neurology 1992, 42:1578-1585.
16. Freese, A. (1997). Gene Therapy of Canavan Disease, clinical trial 222-1997-11.
17. Leone, P. and Simeone, F. A. (2000). Gene Therapy of Canavan Disease using AAV for Brain Gene Transfer, clinical trial 381-2000-01.
18. Delgado C., Francis G.E., Fisher D. The uses and properties of PEG-linked proteins. Crit. Rev. Ther. Drug Carrier Syst. 1992, 9:249-304.
19. Gamez A., Wang L., Straub M., Patch M.G., Stevens R.C. Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase. Mol. Ther. 2004, 9:124-129.
20. Wang L., Gamez A., Sarkissian C.N., Straub M., Patch M.G., Han G.W., Striepeke S., Fitzpatrick P., Scriver C.R., Stevens R.C. Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria. Mol. Genet. Metab. 2005, 86:134-140.
21. Booth C., Gaspar H.B. Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency. Biologics Targets Ther. 2009, 3:349-358.
22. Matalon R., Rady P.L., Platt K.A., Skinner H.B., Quast M.J., Campbell G.A., Matalon K., Ceci J.D., Tyring S.K., Nehls M., Surendran S., Wei J., Ezell E.L., Szucs S. Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system. J. Gene Med. 2000, 2:165-175.
23. Moore R.A., Le Coq J., Faehnle C.R., Viola R.E. Purification and preliminary characterization of brain aspartoacylase. Arch. Biochem. Biophys. 2003, 413:1-8.
24. Bitto E., Bingman C.A., Wesenberg G.E., McCoy J.G., Phillips G.N. Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. Proc. Natl Acad. Sci. USA 2007, 104:456-461.
25. Le Coq J., Pavlovsky A., Malik R., Sanishvili R., Xu C., Viola R.E. Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue. Biochemistry 2008, 47:3484-3492.
26. Madhavarao C.N., Moffett J.R., Moore R.A., Viola R.E., Namboodiri M.A., Jacobowitz D.M. Immunohistochemical localization of aspartoacylase in the rat central nervous system. J. Com. Neurol. 2004, 472:318-329.
27. Arun P., Madhavarao C.N., Moffett J.R., Hamilton K., Grunberg N.E., Ariyannur P.S., Gahl W.A., Anikster Y., Mog S., Hallows W.C., Denu J.M., Namboodiri A.M.A. Metabolic acetate therapy improves phenotype in the tremor rate model of Canavan disease. J. Inherit. Metab. Dis. 2010, 33:195-210.
28. Le Coq J., An H.J., Lebrilla C.B., Viola R.E. Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease. Biochemistry 2006, 45:5878-5884.