Defective Sialic Acid Egress from Isolated Fibroblast Lysosomes of Patients with Salla Disease
Abstract
Normal fibroblasts exposed to N-acetylmannosamine yielded lysosome-rich granular fractions loaded with free (unbound) sialic acid, whose velocity of egress increased with increasing initial loading. Fibroblast granular fractions of patients with Salla disease exhibited negligible egress of sialic acid, whether endogenous or derived from N-acetylmannosamine exposure. Salla disease represents the first disorder demonstrated to be caused by defective transport of a monosaccharide out of cellular lysosomes.
Get full access to this article
View all available purchase options and get full access to this article.
References
AULA, P, SALLA DISEASE - NEW LYSOSOMAL STORAGE DISORDER, ARCHIVES OF NEUROLOGY 36: 88 (1979).
BRUNETTI, P, BIOCH BIOPHYS ACTA 523: 435 (1962).
GAHL, W.A., CHARACTERISTICS OF CYSTINE COUNTER-TRANSPORT IN NORMAL AND CYSTINOTIC LYSOSOME-RICH LEUKOCYTE GRANULAR FRACTIONS, BIOCHEMICAL JOURNAL 216: 393 (1983).
GAHL, W.A., CYSTEAMINE DEPLETES CYSTINOTIC LEUKOCYTE GRANULAR FRACTIONS OF CYSTINE BY THE MECHANISM OF DISULFIDE INTERCHANGE, BIOCHEMICAL JOURNAL 228: 545 (1985).
GAHL, W.A., DEFECTIVE CYSTINE EXODUS FROM ISOLATED LYSOSOME-RICH FRACTIONS OF CYSTINOTIC LEUKOCYTES, JOURNAL OF BIOLOGICAL CHEMISTRY 257: 9570 (1982).
GAHL, W.A., CYSTINE TRANSPORT IS DEFECTIVE IN ISOLATED LEUKOCYTE LYSOSOMES FROM PATIENTS WITH CYSTINOSIS, SCIENCE 217: 1263 (1982).
HANCOCK, L.W., N-ACETYLNEURAMINIC ACID AND SIALOGLYCOCONJUGATE METABOLISM IN FIBROBLASTS FROM A PATIENT WITH GENERALIZED N-ACETYLNEURAMINIC ACID STORAGE DISEASE, BIOCHIMICA ET BIOPHYSICA ACTA 760: 42 (1983).
HASILIK, A, ENZYMATIC PHOSPHORYLATION OF LYSOSOMAL-ENZYMES IN THE PRESENCE OF UDP-N-ACETYLGLUCOSAMINE - ABSENCE OF THE ACTIVITY IN I-CELL FIBROBLASTS, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 98: 761 (1981).
McKusick, V. A., The Metabolic Basis of Inherited Disease: 751 (1983).
PISONI, R.L., DETECTION AND CHARACTERIZATION OF CARRIER-MEDIATED CATIONIC AMINO-ACID TRANSPORT IN LYSOSOMES OF NORMAL AND CYSTINOTIC HUMAN-FIBROBLASTS - ROLE IN THERAPEUTIC CYSTINE REMOVAL, JOURNAL OF BIOLOGICAL CHEMISTRY 260: 4791 (1985).
REITMAN, M.L., FIBROBLASTS FROM PATIENTS WITH I-CELL DISEASE AND PSEUDO-HURLER POLYDYSTROPHY ARE DEFICIENT IN URIDINE 5'-DIPHOSPHATE-N-ACETYLGLUCOSAMINE - GLYCOPROTEIN N-ACETYLGLUCOSAMINYLPHOSPHOTRANSFERASE ACTIVITY, JOURNAL OF CLINICAL INVESTIGATION 67: 1574 (1981).
RENLUND, M, INCREASED URINARY-EXCRETION OF FREE N-ACETYLNEURAMINIC ACID IN 13 PATIENTS WITH SALLA DISEASE, EUROPEAN JOURNAL OF BIOCHEMISTRY 101: 245 (1979).
RENLUND, M, FREE N-ACETYLNEURAMINIC ACID IN TISSUES IN SALLA DISEASE AND THE ENZYMES INVOLVED IN ITS METABOLISM, EUROPEAN JOURNAL OF BIOCHEMISTRY 130: 39 (1983).
RENLUND, M, STUDIES ON THE DEFECT UNDERLYING THE LYSOSOMAL STORAGE OF SIALIC-ACID IN SALLA DISEASE - LYSOSOMAL ACCUMULATION OF SIALIC-ACID FORMED FROM N-ACETYL-MANNOSAMINE OR DERIVED FROM LOW-DENSITY-LIPOPROTEIN IN CULTURED MUTANT FIBROBLASTS, JOURNAL OF CLINICAL INVESTIGATION 77: 568 (1986).
RENLUND, M, CLINICAL AND LABORATORY DIAGNOSIS OF SALLA DISEASE IN INFANCY AND CHILDHOOD, JOURNAL OF PEDIATRICS 104: 232 (1984).
RENLUND, M, SALLA DISEASE - A NEW LYSOSOMAL STORAGE DISORDER WITH DISTURBED SIALIC-ACID METABOLISM, NEUROLOGY 33: 57 (1983).
ROSENBLATT, D.S., DEFECT IN VITAMIN-B12 RELEASE FROM LYSOSOMES - NEWLY DESCRIBED INBORN ERROR OF VITAMIN-B12 METABOLISM, SCIENCE 228: 1319 (1985).
Schneider, J. A., The Metabolic Basis of Inherited Disease: 1844 (1983).
SHUKLA, A.K., HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY OF N,O-ACYLATED SIALIC ACIDS, ANALYTICAL BIOCHEMISTRY 123: 78 (1982).
SILVER, HKB, HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY QUANTITATION OF N-ACETYLNEURAMINIC ACID IN MALIGNANT-MELANOMA AND BREAST-CARCINOMA, JOURNAL OF CHROMATOGRAPHY 224: 381 (1981).
THOENE, J.G., CYSTINOSIS - INTRACELLULAR CYSTINE DEPLETION BY AMINOTHIOLS INVITRO AND INVIVO, JOURNAL OF CLINICAL INVESTIGATION 58: 180 (1976).
THOMAS, G.H., ACCUMULATION OF N-ACETYLNEURAMINIC ACID (SIALIC-ACID) IN HUMAN-FIBROBLASTS CULTURED IN THE PRESENCE OF N-ACETYLMANNOSAMINE, BIOCHIMICA ET BIOPHYSICA ACTA 846: 37 (1985).
THOMAS, G.H., ALTERATIONS IN CULTURED FIBROBLASTS OF SIBS WITH AN INFANTILE FORM OF A FREE (UN-BOUND) SIALIC-ACID STORAGE DISORDER, PEDIATRIC RESEARCH 17: 307 (1983).
TIETZE, F, AMERICAN JOURNAL OF HUMAN GENETICS 37: A19 (1985).
Tietze, F., Biochemical Journal 237: 9 (1986).
TIETZE, F, unpublished data.
Wenger, D. A., The Molecular Basis of Lysosomal Storage Disorders: 61 (1984).
WILBRANDT, W, CONCEPT OF CARRIER TRANSPORT AND ITS COROLLARIES IN PHARMACOLOGY, PHARMACOLOGICAL REVIEWS 13: 109 (1961).
(0)eLetters
eLetters is an online forum for ongoing peer review. Submission of eLetters are open to all. eLetters are not edited, proofread, or indexed. Please read our Terms of Service before submitting your own eLetter.
Log In to Submit a ResponseNo eLetters have been published for this article yet.
Information & Authors
Information
Published In
Science
Volume 232 | Issue 4751
9 May 1986
9 May 1986
Copyright
© 1986.
Submission history
Published in print: 9 May 1986
Authors
Metrics & Citations
Metrics
Article Usage
Altmetrics
Citations
Export citation
Select the format you want to export the citation of this publication.
Cited by
Loading...
View Options
Check Access
Log in to view the full text
AAAS login provides access to Science for AAAS Members, and access to other journals in the Science family to users who have purchased individual subscriptions.
- Become a AAAS Member
- Activate your AAAS ID
- Purchase Access to Other Journals in the Science Family
- Account Help
Log in via OpenAthens.
Log in via Shibboleth.
More options
Purchase digital access to this article
Download and print this article for your personal scholarly, research, and educational use.
Buy a single issue of Science for just $15 USD.
View options
PDF format
Download this article as a PDF file
Download PDF