Diagnosis of lysosomal storage disorders using saposins and...

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

Reexamination Certificate

Rate now

  [ 0.00 ] – not rated yet Voters 0   Comments 0

Details

Reexamination Certificate

active

09936957

ABSTRACT:
The invention provides methods of diagnosing or monitoring lysosomal storage disorders based on detecting levels of saposins, LAMPs and/or α-glucosidase in patient sample. Elevated levels of saposins and/or LAMPs are indicative of a disorder. Elevated levels of α glucosidase are indicative of some types of lysosomal storage disorders and decreased levels of α glucosidase are indicative of other types of lysosomal storage disorder. In some methods, the profile of elevation of different saposins, LAMPs and α glucosidase allows distinction between different types of lysosomal storage disorder.

REFERENCES:
patent: 5501957 (1996-03-01), Dennis et al.
patent: 6376236 (2002-04-01), Dubensky et al.
patent: 29906/92 (1993-06-01), None
patent: 26869/97 (1997-11-01), None
Stastny et al., Productio and Characterizatio of a Monoclonal Antibody to Human Saposin C, 1992, Hybridoma, vol. 11, pp. 351-359.
O'Brien et al., Saposin proteins: structure, function, and role in human lysosomal storage disorders, 1991 The FASEB Journal, vol. 5 (3), 301-8.
Kishimoto et al., Saposins, structure, function, distribution, and molecular genetics 1992, Journal of Lipid Research, vo 33(9), 1255-67.
Meikle et al., Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LaMP-1 as a diagnostic marker, 1997, Clinical Chemistry, vol. 43(8), 1325-35.
Chang M H; Bindloss C A; Grabowski G A; Qi X; Winchester B; Hopwood J J; Meikle P J, Saposins A, B, C, and D in plasma o patients iwth lysosomal storage disorders, Feb. 2000. vol. 46(2), pp. 167-174.
Sano et al., “Sphingolipid hydrolase activator proteins and their precursors”, Biochemical and biophysical research communications, 165 (3), pp. 1191-1197, 1989.
Alexander et al., “5 Related Lebanese Individuals with high Plasma Lysosomal Hydrolases A New Defect in Mannose-6-Phosphate Receptor Recognition,”Am. J. Human Genetics, 36(5):1001-1014 (1984).
Brooks, et al., “Immunoquantification of the Low Abundance Lysosomal Enzyme N-acetylgalactosamine 4-sulphatase,”J. Inherited Metabolic Disease, 13(1):108-120 (1990).
Gatti et al., “Comparative Study of 15 Lysosomal Enzymes in Chorionic Villi and Cultured Amniotic Fluid Cells. Early Prenatal Diagnosis in Seven Pregnancies at Risk for Lysosomal Storage Diseases,”Prenatal Diagnosis, 5(5):329-336 (1985).
Griffiths et al., “Plasma Acid Hydrolases in Normal Adults and Children, and in Patients with Some Lysosomal Storage Diseases,”Clinical Chimica Acta: Int. J. of Clinical Chemistry, 90(2):129-141 (1978).
Hua et al., “Evaluation of the Lysosome-Associated Membrane Protein LAMP-2 as a Marker for Lysosomal Storage Disorders,”Clinical Chemistry, 44(10):2094-2102 (1998).
Kleiman et al., “Sandhoff Disease in Argentina: High Frequency of a Splice Site Mutation in the HEXB Gene and Correlation Between Enzyme and DNA-Based Tests for Heterozygote Detection,”Human Genetics, 94:279-282 (1994).
Lovell et al., “Biochemical and Histochemical Analysis of lysosomal Enzyme Activities in Caprine Beta-Mannosidosis,”Molecular and Chemical Neuropathology, 21(1):61-74 (1994).
McCabe et al., “Preferential Inhibition of Lysosomal Beta Mannosidase by Sucrose,”Enzyme, 43(3):137-145 (1990).
O'Brian et al., “Saposin proteins: structure, function, and role in human lysosomal disorders,”FASEB J., 5(3):301-308 (1991).
Prence et al., “Diagnosis of Alpha Mannosidosis by Measuring Alpha Mannosidase in Plasma,”Clinical Chemistry, 38(4):501-503 (1992).
Tager, J.M., “Biosynthesis and deficiency of lysosomal enzymes,”TIBS, 10(8):324-326 (1985).
Whitley et al., “Long-term Outcome of Hurler Syndrome Following Bone Marrow Transplantation,”Am. J. Medical Genetics, 46(2):209-218 (1993).
Yamaguchi et al., “Improvement of Tear Lysosomal Enzyme Levels After Treatment with Bone Marrow Transplantation in a Patient with I-Cell Disease,”Opthalmic Research, 21(3):226-229 (1989).
Yufeng et al., “Elevated Plasma Chitotriosidase Activity In Various Lysosomal Storage Disorders,”J. Inherited Metabolic Disease, 18(6):717-722 (1995).
Aerts et al., “The occurrence of two immunologically distinguishable β-glucocerebrosidases in human spleen,”Eur. J. Biochem., 150:565-574 (1985).
Baghdiguian et al., “Co-localization of suramin and serum albumin in lysosomes of suramin-treated human colon cancer cells,”Cancer Letters, 101:179-184 (1996).
Burkhardt et al., “The Giant Organelles inBeigeand Chediak-Higashi Fibroblasts Are Derived from Late Endosomes and Mature Lysosomes,”J. Exp. Med., 178:1845-1856 (1993).
Chamberlain et al., “Generation and Characterization of Monoclonal Antibodies to Human Type-5 Tartrate-Resistant Acid Phosphatase: Development of a Specific Immunoassay of the Isoenzyme in Serum,”Clin. Chem., 41(10):1495-1499 (1995).
Colman, P., “Effects of amino acid sequence changes on antibody-antigen interactions,”Reserch In Immunology, 145:33-36 (1994).
Conary et al., “Synthesis and Stability of Steriod Sulfatase in Fibroblasts from Multiple Sulfatase Deficiency,”Biological Chemistry, 369:297-302 (1988).
Dahlgren et al., “The lysosomal membrane glycoproteins Lamp-1 and Lamp-2 are present in mobilizable organelles, but are absent from the azurophil granules of human neutrophils,”J. Biochem., 311:667-674 (1995).
Karageorgos et al., “Lysosomal Biogenesis in Lysosomal Storage Disorders,”Experimental Cell Research, 234:85-97 (1997).
Kishimoto et al., “Saposins: structure, function, distribution, and molecular genetics,”J. Lipid Research, 33:1255-1267 (1992).
Meikle et al., “Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker,”Clinical Chemistry, 43(8):1325-1335 (1997).
Michelakakis et al., “Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies,”J. Inher. Metab. Dis., 18:609-615 (1995), with abstract.
Paschke et al., “Infantile type of sialic acid storage disease with sialuria,”Clinical Genetics, 29:417-424 (1986).
Renlund, M., “Clinical and laboratory diagnosis of Salla disease in infancy and childhood,”Journal of Pediatrics, 104(2):232-236 (1979).
Renlund et al., “Increased Urinary Excretion of FreeN-Acetylneuraminic Acid in Thirteen Patients with Salla Disease,”European Journal of Biochemistry, 101:245-250 (1979).
Renlund et al., “Salla disease: A new lysosomal storage disorder with disturbed sialic acid metabolism,”Neurology, 33:57-66 (1983).
Renlund et al, “Studies on the Defect Underlying the Lysosomal Storage of Sialic Acid in Salia Disease: Lysosomal Accumulation of Sialic Acid Formed FromN-Acetyl-Mannosamine or Derived from Low Density Lipoprotein in Cultured Mutant Fibroblasts,”Journal of Clinical Investigation, 77:568-574 (1986).
Rodriguez-Serna et al., “Angiokeratoma Corporis Diffusum Associated With β-Mannosidase Deficiency,”Arch. Dermatol., 132:1219-1222 (1996).
Sandoval et al., “Lysosomal Integral Membrane Glycoproteins Are Expressed at high Levels in the Inclusion Bodies of I-Cell Disease Fibroblasts,”Arch. Biochem. &Biophysics271(1):157-167 (1989).
Waheed et al., “Enhanced Breakdown of Arylsulfatase A in Multiple Sulfatase Deficiency,”European Journal of Biochemistry, 123:317-321 (1982).

LandOfFree

Say what you really think

Search LandOfFree.com for the USA inventors and patents. Rate them and share your experience with other people.

Rating

Diagnosis of lysosomal storage disorders using saposins and... does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Diagnosis of lysosomal storage disorders using saposins and..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Diagnosis of lysosomal storage disorders using saposins and... will most certainly appreciate the feedback.

Rate now

     

Profile ID: LFUS-PAI-O-3949244

  Search
All data on this website is collected from public sources. Our data reflects the most accurate information available at the time of publication.