Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes |
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| Authors: | A J Jonas |
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| Institution: | 1. Pediatric Neurology Department, Medical University of Warsaw, Warsaw, Poland;2. Department of Gynecological Endocrinology, Medical University of Warsaw, Warsaw, Poland;3. Research Department, The Children''s Memorial Health Institute, Warsaw, Poland;5. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States;6. Departments of Pediatrics and Genetics, The Children’s Hospital at Montefiore, Bronx, NY, 10467, United States;7. Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States;8. Department of Neurology, Mayo Clinic, Rochester, MN, 55905, United States;9. Salla Treatment and Research (STAR) Foundation, Bronx, NY, 10471, United States;10. Université de Paris, Saints-Pères Paris Institute for the Neurosciences (SPPIN), Centre National de la Recherche Scientifique (CNRS), 75006, Paris, France;11. Department of Genetics, Yale School of Medicine, New Haven, CT, 06519, United States;12. Neural Ltd, Center of Neuropsychology, 90100, Oulu, Finland;13. Oulu University Hospital, Department of Neurology, 90029, Oulu, Finland;14. Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, 94305, CA, United States;15. Palo Alto Veterans Administration Health Care System, Palo Alto, 94304, CA, United States;p. Division of Metabolic Disorders, Children’s Hospital of Orange County, 92868, CA, United States;q. University of California-Irvine School of Medicine, Irvine, 92868, CA, United States;r. Department of Molecular and Cell Biology, University of California, Berkeley, 94729, CA, United States;1. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States;2. Departments of Pediatrics and Genetics, The Children’s Hospital at Montefiore, Bronx, NY, 10467, United States;3. Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States;4. Department of Neurology, Mayo Clinic, Rochester, MN, 55905, United States;1. Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada;2. Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada;3. Department of Medical Genetics, Alberta Children''s Hospital, Cumming School of Medicine, University of Calgary, Alberta, Canada;4. Division of Pediatric Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada;5. Diagnostic Neuroradiology, Department of Medical Imaging, University of Toronto, Toronto, Ontario Canada;6. Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada;7. Department of Pediatrics, University of Toronto, Toronto, Ontario Canada;8. Institute of Medical Sciences, University of Toronto, Toronto, Ontario Canada |
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| Abstract: | Purified rat liver lysosomes were incubated in 0.2 M sialic acid resulting in an increase in lysosomal free sialic acid of 3.8 +/- 1.5 nmol/unit beta hexosaminidase. Sialic acid loss by these lysosomes was stimulated 2-3 fold by 25 mM sodium phosphate. Loss of sialic acid by lysosomes from cultured human diploid fibroblasts was similar to that observed in rat liver lysosomes while loss of sialic acid by lysosomes from cultured fibroblasts from a patient with infantile Salla disease occurred much more slowly. Salla disease appears to be the consequence of defective lysosomal transport of sialic acid and is analogous to cystinosis, a disorder of lysosomal amino acid transport. |
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