Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis

Glycoconjugate Journal

Volumn 26, Issue 6 SPEC. ISS., 2009, Pages 623-633

  Prinetti, Alessandro ^a,f   Rocchetta, Federica ^a   Costantino, Elvira ^b   Frattini, Annalisa ^b,c   Caldana, Elena ^b,c   Rucci, Francesca ^d   Bettiga, Arianna ^b   Poliani, Pietro L ^e   Chigorno, Vanna ^a   Sonnino, Sandro ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

^c HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF BRESCIA   (Italy)

^f NONE   (Italy)

Author keywords

Demyelination; Gangliosides; Myelin; Ostepetrosis; Sphingolipids

Indexed keywords

BRAIN PROTEIN; CHOLESTEROL; GALACTOSYLCERAMIDE; GANGLIOSIDE; GANGLIOSIDE GM2; GANGLIOSIDE GM3; GLYCOSPHINGOLIPID; MEMBRANE PROTEIN; OSTEOPETROSIS ASSOCIATED TRANSMEMBRANE PROTEIN 1; PHOSPHOLIPID; SPHINGOMYELIN; SULFATIDE; UNCLASSIFIED DRUG;

ALBERS SCHOENBERG DISEASE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; IMMUNOHISTOCHEMISTRY; LIPID BRAIN LEVEL; LIPID COMPOSITION; MOUSE; MYELINATED NERVE; NEUROLOGIC DISEASE; NONHUMAN; PRIORITY JOURNAL; THIN LAYER CHROMATOGRAPHY;

ANIMALS; BRAIN; CELLS, CULTURED; CHOLESTEROL; FEMALE; GALACTOSYLCERAMIDES; GANGLIOSIDES; GLYCEROPHOSPHOLIPIDS; LIPIDS; MALE; MEMBRANE PROTEINS; MICE; MUTATION; MYELIN SHEATH; OSTEOPETROSIS; SPHINGOLIPIDS;

MUS;

EID: 67651150040     PISSN: 02820080     EISSN: 15734986     Source Type: Journal    
DOI: 10.1007/s10719-008-9179-8     Document Type: Conference Paper

References (54)

1. J. Tolar S.L. Teitelbaum P.J. Orchard 2004 Osteopetrosis N. Engl. J. Med. 351 2839 2849
2. C. Sobacchi A. Frattini M.M. Guerrini M. Abinun A. Pangrazio L. Susani 2007 Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL Nat. Genet. 39 960 962
3. A. Frattini P.J. Orchard C. Sobacchi S. Giliani M. Abinun J.P. Mattsson 2000 Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis Nat. Genet. 25 343 346
4. U. Kornak A. Schulz W. Friedrich S. Uhlhaas B. Kremens T. Voit 2000 Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis Hum. Mol. Genet. 9 2059 2063
5. J.C. Scimeca D. Quincey H. Parrinello D. Romatet J. Grosgeorge P. Gaudray 2003 Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis Hum. Mutat. 21 151 157
6. A. Frattini A. Pangrazio L. Susani C. Sobacchi M. Mirolo M. Abinun 2003 Chloride schannel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis J. Bone Miner. Res. 18 1740 1747
7. U. Kornak D. Kasper M.R. Bosl E. Kaiser M. Schweizer A. Schulz 2001 Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man Cell 104 205 215
8. E. Cleiren O. Benichou E. Van Hul J. Gram J. Bollerslev F.R. Singer 2001 Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene Hum. Mol. Genet. 10 2861 2867
9. P.F. Lange L. Wartosch T.J. Jentsch J.C. Fuhrmann 2006 ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function Nature 440 220 223
10. T.J. Jentsch 2007 Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters J. Physiol. 578 633 640
11. N. Chalhoub N. Benachenhou V. Rajapurohitam M. Pata M. Ferron A. Frattini 2003 Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human Nat. Med. 9 399 406
12. P. Quarello M. Forni L. Barberis C. Defilippi M.F. Campagnoli L. Silvestro 2004 Severe malignant osteopetrosis caused by a GL gene mutation J. Bone Miner. Res. 19 1194 1199
13. A. Ramirez J. Faupel I. Goebel A. Stiller S. Beyer C. Stockle 2004 Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis Hum. Mutat. 23 471 476
14. A. Pangrazio P.L. Poliani A. Megarbane G. Lefranc E. Lanino M. Di Rocco 2006 Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement J. Bone Miner. Res. 21 1098 1105
15. E.J. Gerritsen J.M. Vossen A. Fasth W. Friedrich G. Morgan A. Padmos 1994 Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group J. Pediatr. 125 896 902
16. G.J. Driessen E.J. Gerritsen A. Fischer A. Fasth W.C. Hop P. Veys 2003 Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report Bone Marrow Transplant. 32 657 663
17. M.E. Feigin C.C. Malbon 2008 OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling Cell. Signal. 20 949 957
18. R. Ghidoni S. Sonnino M. Masserini P. Orlando G. Tettamanti 1981 Specific tritium labeling of gangliosides at the 3-position of sphingosines J. Lipid Res. 22 1286 1295
19. E. Negroni V. Chigorno G. Tettamanti S. Sonnino 1996 Evaluation of the efficiency of an assay procedure for gangliosides in human serum Glycoconj. J. 13 347 352
20. A. Prinetti V. Chigorno S. Prioni N. Loberto N. Marano G. Tettamanti 2001 Changes in the lipid turnover, composition, and organization, as sphingolipid-enriched membrane domains, in rat cerebellar granule cells developing in vitro J. Biol. Chem. 276 21136 21145
21. L. Riboni R. Bassi S. Sonnino G. Tettamanti 1992 Formation of free sphingosine and ceramide from exogenous ganglioside GM1 by cerebellar granule cells in culture FEBS Lett. 300 188 192
22. L. Riboni A. Prinetti M. Pitto G. Tettamanti 1990 Patterns of endogenous gangliosides and metabolic processing of exogenous gangliosides in cerebellar granule cells during differentiation in culture Neurochem. Res. 15 1175 1183
23. L. Svennerholm 1957 Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method Biochim. Biophys. Acta 24 604 611
24. G.R. Bartlett 1959 Phosphorus assay in column chromatography J. Biol. Chem. 234 466 468
25. E.L. Kean 1966 Separation of gluco- and galactocerebrosides by means of borate thin-layer chromatography J. Lipid Res. 7 449 452
26. A. Prinetti V. Chigorno G. Tettamanti S. Sonnino 2000 Sphingolipid-enriched membrane domains from rat cerebellar granule cells differentiated in culture. A compositional study J. Biol. Chem. 275 11658 11665 (Pubitemid 30237726)
27. V.E. Vaskovsky E.Y. Kostetsky 1968 Modified spray for the detection of phospholipids on thin-layer chromatograms J. Lipid Res. 9 396
28. S.M. Partridge 1948 Filter-paper partition chromatography of sugars: 1. General description and application to the qualitative analysis of sugars in apple juice, egg white and foetal blood of sheep. with a note by R. G. Westall Biochem. J. 42 238 250
29. S. Schwimmer A. Bevenue 1956 Reagent for differentiation of 1,4- and 1,6-linked glucosaccharides Science 123 543 544
30. T.M. Banny G. Clark 1950 The new domestic cresyl echt violet Stain Technol. 25 195 196
31. O.H. Lowry N.J. Rosebrough A.L. Farr R.J. Randall 1951 Protein measurement with the folin phenol reagent J. Biol. Chem. 193 265 275
32. H. Gruneberg 1936 Grey-lethal, a new mutation in the house mouse J. Hered. 27 105 109
33. D.G. Walker 1975 Spleen cells transmit osteopetrosis in mice Science 190 785 787
34. J.M. Matthieu S. Widmer N. Herschkowitz 1973 Biochemical changes in mouse brain composition during myelination Brain Res. 55 391 402
35. C.S. Chen M.C. Patterson C.L. Wheatley J.F. O'Brien R.E. Pagano 1999 Broad screening test for sphingolipid-storage diseases Lancet 354 901 905
36. V. Chigorno G. Tettamanti S. Sonnino 1996 Metabolic processing of gangliosides by normal and Salla human fibroblasts in culture. A study performed by administering radioactive GM3 ganglioside J. Biol. Chem. 271 21738 21744
37. K. Utsumi A. Tsuji R. Kase A. Tanaka T. Tanaka E. Uyama 2002 Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis Acta Neurol. Scand. 105 427 430
38. V. Gieselmann 1995 Lysosomal storage diseases Biochim. Biophys. Acta 1270 103 136
39. A. Huwiler T. Kolter J. Pfeilschifter K. Sandhoff 2000 Physiology and pathophysiology of sphingolipid metabolism and signaling Biochim. Biophys. Acta 1485 63 99
40. H. Igisu K. Suzuki 1984 Progressive accumulation of toxic metabolite in a genetic leukodystrophy Science 224 753 755
41. K. Suzuki 1998 Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status Neurochem. Res. 23 251 259
42. S. Sonnino L. Mauri V. Chigorno A. Prinetti 2007 Gangliosides as components of lipid membrane domains Glycobiology 17 1R 13R
43. A. Reddy E.V. Caler N.W. Andrews 2001 Plasma membrane repair is mediated by Ca(2+)-regulated exocytosis of lysosomes Cell 106 157 169
44. B. Allinquant P. Hantraye P. Mailleux K. Moya C. Bouillot A. Prochiantz 1995 Downregulation of amyloid precursor protein inhibits neurite outgrowth in vitro J. Cell Biol. 128 919 927
45. T. Ikezu B.D. Trapp K.S. Song A. Schlegel M.P. Lisanti T. Okamoto 1998 Caveolae, plasma membrane microdomains for alpha-secretase-mediated processing of the amyloid precursor protein J. Biol. Chem. 273 10485 10495
46. M. Simons P. Keller B. De Strooper K. Beyreuther C.G. Dotti K. Simons 1998 Cholesterol depletion inhibits the generation of beta-amyloid in hippocampal neurons Proc. Natl. Acad. Sci. U. S. A. 95 6460 6464
47. L.P. Choo-Smith W.K. Surewicz 1997 The interaction between Alzheimer amyloid beta(1-40) peptide and ganglioside GM1-containing membranes FEBS Lett. 402 95 98
48. D.L. Fortin M.D. Troyer K. Nakamura S. Kubo M.D. Anthony R.H. Edwards 2004 Lipid rafts mediate the synaptic localization of alpha-synuclein J. Neurosci. 24 6715 6723
49. E.E. Benarroch 2007 Lipid rafts, protein scaffolds, and neurologic disease Neurology 69 1635 1639
50. M. Vey S. Pilkuhn H. Wille R. Nixon S.J. DeArmond E.J. Smart 1996 Subcellular colocalization of the cellular and scrapie prion proteins in caveolae-like membranous domains Proc. Natl. Acad. Sci. U. S. A. 93 14945 14949
51. C. Rodriguez-Lafrasse M.T. Vanier 1999 Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B Neurochem. Res. 24 199 205
52. R.K. Yu E. Bieberich T. Xia G. Zeng 2004 Regulation of ganglioside biosynthesis in the nervous system J. Lipid Res. 45 783 793
53. M.K. Maxzud J.L. Daniotti H.J. Maccioni 1995 Functional coupling of glycosyl transfer steps for synthesis of gangliosides in Golgi membranes from neural retina cells J. Biol. Chem. 270 20207 20214
54. H.J. Maccioni 2007 Glycosylation of glycolipids in the Golgi complex J. Neurochem. 103 Suppl 1 81 90