Gaucher disease: Plasmalogen levels in relation to primary lipid abnormalities and oxidative stress

Blood Cells, Molecules, and Diseases

Volumn 53, Issue 1-2, 2014, Pages 30-33

  Moraitou, Marina ^a   Dimitriou, Evangelia ^a   Dekker, Nick ^b   Monopolis, Ioannis ^a   Aerts, Johannes ^b   Michelakakis, Helen ^a  

^a Institute of Child Health   (Greece)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Ceramide; Gaucher disease; Glucosylceramide; Glucosylsphingosine; Oxidative stress; Plasmalogens

Indexed keywords

CERAMIDE; GLUCOSYLCERAMIDE; GLUCOSYLSPHINGOSINE; MALONALDEHYDE; PLASMALOGEN; SPHINGOSINE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CELL MEMBRANE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DOWN REGULATION; ERYTHROCYTE; FEMALE; GAUCHER DISEASE; HUMAN; LIPID BLOOD LEVEL; LIPID DISORDER; LIPID PEROXIDATION; LIPID STORAGE; MALE; OXIDATIVE STRESS; PRIORITY JOURNAL; UPREGULATION; ADOLESCENT; BLOOD; CASE CONTROL STUDY; CHILD; LIPID METABOLISM; METABOLISM; MIDDLE AGED; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CERAMIDES; CHILD; CHILD, PRESCHOOL; ERYTHROCYTES; GAUCHER DISEASE; GLUCOSYLCERAMIDES; HUMANS; LIPID METABOLISM; LIPID PEROXIDATION; MIDDLE AGED; OXIDATIVE STRESS; PLASMALOGENS; YOUNG ADULT;

EID: 84900020792     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2014.01.005     Document Type: Article

References (24)

1. Beutler E., Grabowski G.A. Gaucher disease. The Metabolic and Molecular Basis of Inherited Disease 2001, 3635-3668. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Aerts J.M.F.G., Hollak C.E. Plasma and metabolic abnormalities in Gaucher disease. Bailliere's Clinical Haematology 1997, 691-711. Bailliere Tindal London, Philadelphia, Sydney, Tokyo, Toronto. C. Hershko, A.V. Hoffbrand, D.C. Linch, D. Metcalf, D.J. Weatherall, A. Zimran (Eds.).
3. Aerts J.M.F.G., Kallemejin W.W., Wegdam W., Ferraz M.J., van Breemen M.J., Dekker N., Krammer G., Poorthuis B.J., Groener J.E.M., Cox-Brinkman J., Rombach S.M., Hollak C.E.M., Linthorst G.E., Witte M.D., Gold H., van der Marel G.A., Overkleeft H.S., Boot R.G. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids and inhibodies. J. Inherit. Metab. Dis. 2011, 34:605-619.
4. Moraitou M., Dimitriou E., Zafeiriou D., Reppa C., Marinakis T., Sarafidou J., Michelakakis H. Plasmalogen levels in Gaucher disease. Blood Cells Mol. Dis. 2008, 41:196-199.
5. Braverman N.E., Moser A.B. Functions of plasmalogen lipids in health and disease. Biochim. Biophys. Acta 2012, 1822:1442-1452.
6. Gorgas G.K., Teigler A., Komljehovic D., Just W.W. Tracking down plasmalogen functions. Biochim. Biophys. Acta 2006, 1763:1511-1526.
7. Jain S.K. Membrane lipid peroxidation in erythrocytes of the newborn. Clin. Chim. Acta 1986, 161:301-306.
8. Groener J.E., Poorthuis B.J., Kuiper S., Hollak C.E., Aerts J.M. Plasma glycosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention. Biochim. Biophys. Acta 2008, 1781:72-78.
9. Dekker N., van Dussen L., Hollak C.E., Overkleeft H., Scheij S., Ghaubuarali K., van Breemen M.J., Ferraz M.J., Groener J.E.M., Maas M., Wijburg F.A., Tylki-Szymanska A., Mistry P.K., Boot R.G., Aerts J.M. Elevated plasma glucosylsphingosine in type 1 Gaucher disease patients: correlations with storage cells markers, clinical manifestations and response to therapy. Blood 2011, 118:118-127.
10. Latorre E., Collado M.P., Fernandez I., Aragones M.D., Catalan R.E. Signaling events mediating activation of brain ethanolamine plasmalogen hydrolysis by ceramide. Eur. J. Biochem. 2003, 270:36-46.
11. Rayhavan S.S., Mumford R.A., Kanfer J.N. Deficiency of glucosylsphingosine: beta-glucosidase in Gaucher disease. Biochem. Biophys. Res. Commun. 1973, 54:256-263.
12. Nilsson O., Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J. Neurochem. 1982, 39:709-718.
13. Orvisky E., Park J.K., La Marca M.E., Ginns E.I., Martin B.M., Tayebi N., Sindransky E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol. Genet. Metab. 2002, 76:262-270.
14. Svennerholm L., Vanier M.T., Mansson J.E. Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. J. Lipid Res. 1980, 21:53-64.
15. Aerts J.M., Groener J.E., Kuiper S., Donker-Koopman W.E., Strijland A., Ottenhoff R., van Roomen C., Mirzaian M., Wijburg F.A., Linthorst G.E., Vedder A.C., Rombach S.M., Cox-Brinkman J., Somerharjn P., Boot R.G., Hollak C.E., Brady R.O., Poorthuis B.J. Elevated globotriasylsphingosine is a hallmark of Fabry disease. Proc. Natl. Acad. Sci. U. S. A. 2008, 108:2812-2817.
16. 2 gangliosidoses. J. Neurochem. 1992, 59:1452-1458.
17. Khan M., Haq E., Giri S., Singh I., Singh A.K. Peroxisomal participation in psychosine-mediated toxicity: implications for Krabbe's disease. J. Neurosci. Res. 2005, 80:845-854.
18. Brites P., Motley A.M., Gressens P., Mooyer P.A., Ploegaert I., Everts V., Evrard P., Carmeliet P., Dewerchin M., Schoonjans L., Duran M., Waterham H.R., Wanders R.J., Baes M. Impaired neuronal migration and endochondral ossification in PEX7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum. Mol. Genet. 2003, 12:2255-2267.
19. Vitner E.B., Platt F.M., Futerman A.H. Common and uncommon pathogenic cascades in lysosomal storage diseases. J. Biol. Chem. 2010, 285:20423-20427.
20. Deganuto M., Pittis M.G., Pines A., Dominissimi S., Kelly M.R., Garcia R., Quadrifoglio F., Bembi B., Tell G. Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress. J. Cell. Physiol. 2007, 212:223-235.
21. Roversi F.M., Galdieri L.C., Grego B.H.C., Souza F.G., Micheletti C., Martins A.M., D'Almeida V. Blood oxidative stress markers in Gaucher disease patients. Clin. Chim. Acta 2006, 364:316-320.
22. Zahran A.M., Elsayh K.I., El-Deek S.E.M., El-Baz M.A.H. Oxidative stress, trace elements and circulating microparticles in patients with Gaucher disease before and after enzyme replacement therapy. Clin. Appl. Thromb. Hemost. 2013, 10.1177/1076029613489595.
23. Wallner S., Schmitz G. Plasmalogens the neglected regulatory and scavenging lipid species. Chem. Phys. Lipids 2011, (2011.06.008). 10.1016/j.chemphyslip.
24. Hahnel D., Huber T., Kurze V., Beyer K., Engelmann B. Contribution of copper binding to the inhibition of lipid oxidation by plasmalogen phospholipids. Biochem. J. 1999, 340:377-383.