Aspartoacylase gene, protein, and methods of screening for...

Details Aspartoacylase gene, protein, and methods of screening for... Aspartoacylase gene, protein, and methods of screening for...

2007-05-15

2007-05-15

Carlson, Karen Cochrane (Department: 1653)

Chemistry: molecular biology and microbiology

Enzyme , proenzyme; compositions thereof; process for...

C530S350000, C424S094600

Reexamination Certificate

active

09965807

ABSTRACT:
Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. Human aspartoacylase (ASP) cDNA spanning 1,435 bp has been cloned and expressed inE. coli. A base change, a854>c, has been found in 85% of the 34 Canavan alleles tested so far, which results in a missense glu285>ala mutation that is predicted to be part of the catalytic domain of aspartoacylase. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits, methods of treating Canavan disease and methods of genetic therapy for the disease.

REFERENCES:
Kaul et al., Aspartoacylase Deficiency in Canavan Disease: Partial Purification and Distribution in Mammalian Brain, 1988, American Journal of Human Genetics, 43, p. A10.
Methods in Enzymology :Table of Contents, vol. 182, pp. 1-894, Guide to Protein Purification. 1990. Edited by M.P. Deutscher.
Kornberg, A. Why Pruify Enzymes? pp. 1-5, Methods in Enzymology, 1990, vol. 182, Chapter 1, pp. 1-5.
Kaul et al. (a), Aspartoacylase Deficiency in Canavan Disease: Partial Purification and Distribution in Mammalian Brain, 1988, American Journal of Human Genetics, vol. 43, p. A10.
Kaul et al., J. Neurochem. 56 (1) 129-135 (1991).
Matalon et al., Am. J. Med. Genet. 29: 463-471 (1988).
R. Matalon et al., Aspartoacylase Deficiency: The Enzyme Defect in Canavan Disease; Journal of Inherited Metabolic. Disease 12 Suppl. 2 (1989); pp. 329-331.
Leong et al.,Methods of Enzymology,78: 87-101 (1981).
Hagenfeldt et al., J. Inherit.Metab. Dis. 10(2) 135-141 (1987).
D'Adams et al., J. Neurochem. 28 (4) 739-44 (1977).

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