Acid sphingomyelinase gene and diagnosis of Niemann-Pick disease

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 911, 435 912, 435810, 536 232, 536 2433, 536 2431, C12Q 168, C12P 1934, C07H 2104, C07H 2102

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056862407

ABSTRACT:
The present invention relates to the acid sphingomyelinase gene and to methods of diagnosing Niemann-Pick disease. It is based, at least in part, on the cloning and expression of the full-length cDNA encoding acid sphingomyelinase, the cloning and characterization of the genomic structure of the acid sphingomyelinase gene, and on the discovery of frequent mutations in the acid sphingomyelinase gene of Ashkenazi Jewish Niemann-Pick disease patients.

REFERENCES:
patent: 4683195 (1987-07-01), Mullis et al.
Schuchman et al. (1989) American Journal of Human Genetics, vol. 45 (4 Su), p. A217.
Levran et al. (May 1, 1991) Proc. Natl. Acad. Sci., vol. 88(9), pp. 3748-3752.
Da Veiga Pereira et al. (Feb. 1991) Genomics, vol. 9(2), pp. 229-234.
Kaufman et al. (1982) Mol. Cell Biology, vol. 2, pp. 1304-1319.
Urlang et al. (1986) Somat. Cell Genet., vol. 12, pp. 555-566.
Brady, R.O. et al., 1966, Proc. Natl. Acad. Sci. USA 55:366-369, "The Metabolism of Sphingomyelin. II. Evidence of an Enzymatic Deficiency in Niemann-Pick Disease".
Schneider, P.B. and Kennedy, E.P., 1967, J. Lipid Res. 8:202-206, "Sphingomyelinase in Normal Human Spleens and in Spleens from Subjects With Niemann-Pick Disease".
Besley, G.T.N. et al., 1980, Human Genetics 54:409-412, "Somatic Cell Hybridisation Studies Showing Different Gene Mutations in Niemann-Pick Variants".
Kaufman, R.J. et al., 1982, Mol. Cell Biol. 2:1304-1319, "Construction of a Modular Dihydrofolate Reductase cDNA Gene: Analysis of Signals Utilized for Efficient Expression".
Poulos, A. et al., 1984, Pediatric Research 18:1088-1093, "Studies on the Activation of Sphingomyelinase Activity in Niemann-Pick Type A, B, and C Fibroblasts: Enzymological Differentiation of Types A and B".
Callahan, J.W. et al., 1985, Pediatric Research 19:244A, "cDNA Clones for Human Sphingomyelinase Isolated Using the .lambda.gt11 System".
Besley, G.T.N. and Elleder, M., 1986, J. Inher. Metab. Dis. 9:59-71, "Enzyme Activities and Phospholipid Storage Patterns in Brain and Spleen Samples from Niemann-Pick Disease Variants: a Comparison of Neuropathic and Non-Neuropathic Forms".
Levade, T. et al., 1986, J. Clin. Chem. Clin. Biochem. 24:205-220, "Sphingomyelinases and Niemann-Pick Disease".
Urlaub, G. et al., 1986, Somat. Cell. Mol. Genet. 12:555-566, "Effect of Gamma Rays at the Dihydrofolate Reductase Locus: Deletions and Inversions".
Quintern, L.E. et al., 1987, Biochim. Biophys. Acta 922:323-336, "Acid Sphingomyelinases from Human Urine: Purification and Characterization".
Klar, R. et al., 1988, Clin. Chim. Acta 176:259-268, "Synthesis of Pyrenesulfonylamido-sphingomyelin and Its Use as Substrate for Determining Sphingomyelinase Activity and Diagnosing Niemann-Pick Disease".
Weiler, S. et al., 1988, J. Cell Biol. 107:303a, "A Complementation Approach to Cloning the Gene for Acid Sphingomyelinase".
Elleder, M., 1989, Pathol. Res. Pract. 185:293-328, "Niemann-Pick Disease".
Navon, R. and Proia, R., 1989, Science 243:1471-1474, "The Mutations in Ashkenazi Jews With Adult G.sub.m2 Gangliosidosis, the Adult Form of Tay-Sachs Disease".
Quintern, L.E. et al., 1989, EMBO J. 8:2469-2473, "Isolation of cDNA Clones Encoding Human Acid Sphingomyelinase: Occurrence of Alternatively Processed Transcripts".
Schuchman, E. et al., 1989, Amer. J. Human Genetics 45(Suppl):A217, "Isolation of a Full-Length cDNA Encoding Human Acid Sphingomyelinase: Evidence for Alternative Splicing".
Triggs-Raine, B.L. et al., 1990, N. Eng. J. Med. 323:6-12, "Screening for Carriers of Tay-Sachs Disease Among Ashkenazic Jews".
DaVeiga Pereira, L. et al., 1991, Genomics 9:229-234, "Regional Assignment of the Human Acid Sphingomyelinase Gene (SMPD1) by PCR Analysis of Somatic Cell Hybrids and in Situ Hybridization to 11p15.1--p15.4".
Ferlinz, K. et al., 1991, Biochem. Biophys. Res. Comm. 179:1187-1191, "Molecular Basis of Acid Sphingomyelinase Deficiency in a Patient With Niemann-Pick Disease Type A".
Levran, O. et al., 1991, Proc. Natl. Acad. Sci. USA 88:3748-3752, "Niemann-Pick Disease: a Frequent Missense Mutation in the Acid Sphingomyelinase Gene of Ashkenazi Jewish Type A and B Patients".
Levran, O. et al., 1991, J. Clin. Invest. 88:806-810, "Niemann-Pick Type B Disease. Identification of a Single Codon Deletion in the Acid Sphingomyelinase Gene and Genotype/Phenotype Correlations in Type A and B Patients".
Schuchman, E. et al., 1991, J. Biol. Chem. 266:8531-8539, "Human Acid Sphingomyelinase. Isolation, Nucleotide Sequence and Expression of the Full-Length and Alternatively Spliced cDNAs".
Levran, O. et al., 1992, Blood 80:2081-2087, "Identification and Expression of a Common Missense Mutation (L302P) in the Acid Sphingomyelinase Gene of Ashkenazi Jewish Type A Niemann-Pick Disease Patients".
Takahashi, T. et al., 1992, J. Biol. Chem. 267:12552-12558, "Identification and Expression of Five Mutations in the Human Acid Sphingomyelinase Gene Causing Type A and B Niemann-Pick Disease".
Levran, O. et al., 1993, Human Mutation 2:317-319, "Type A Niemann-Pick Disease: a Frameshift Mutation in the Acid Sphingomyelinase Gene (fsP330) Occurs in Ashkenazi Jewish Patients".
Vanier, M. et al., 1993, Human Genetics 92:325-330, "Deletion of Argenine (608) in Acid Sphingomyelinase is the Prevalent Mutation Among Niemann-Pick Disease Type B Patients From Northern Africa".

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