Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice

Molecular Therapy

Volumn 13, Issue 3, 2006, Pages 556-564

  Dhami, Rajwinder ^a   Passini, Marco A ^b   Schuchman, Edward H ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b GENZYME CORPORATION   (United States)

Author keywords

Acid sphingomyelinase; Biomarkers; Lysosomal storage disorder; Microarray; Therapy

Indexed keywords

AMYLOID A PROTEIN; BIOLOGICAL MARKER; CHEMOKINE; CYTOKINE; FERRITIN; GROWTH HORMONE; MACROPHAGE INFLAMMATORY PROTEIN 1ALPHA; MESSENGER RNA; OROSOMUCOID; SPHINGOMYELIN PHOSPHODIESTERASE;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN DISEASE; CONTROLLED STUDY; DATA ANALYSIS; ENZYME REPLACEMENT; GENE EXPRESSION; GENE THERAPY; GROWTH HORMONE BLOOD LEVEL; KNOCKOUT MOUSE; LUNG DISEASE; MICROARRAY ANALYSIS; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; PATHOGENESIS; REAL TIME POLYMERASE CHAIN REACTION; VALIDATION PROCESS;

ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; GENE EXPRESSION PROFILING; GENETIC MARKERS; LUNG; MACROPHAGE INFLAMMATORY PROTEIN-1; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; NIEMANN-PICK DISEASES; SPHINGOMYELIN PHOSPHODIESTERASE;

ANIMALIA;

EID: 32944461241     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2005.08.020     Document Type: Article

References (40)

1. E.H. Schuchman R.J. Desnick Types A and B Niemann-Pick disease (C.R. Scriver A.L. Beaudet D. Valle W.S. Sly Eds.), The Metabolic and Molecular Basis of Inherited Disease 8th ed. 2001 McGraw-Hill New York 3589-3610
2. M. Elleder J. Chihula Niemann-Pick disease (variation in the sphingomyelinase deficient group): Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings Eur. J. Pediatr. 140 1983 323-328
3. N.J. Weinreb et. al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry Am. J. Med. 113 2002 112-119
4. W.R. Wilcox et. al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease Am. J. Hum. Genet. 75 2004 65-74
5. J.E. Wraith et. al. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha- l -iduronidase (laronidase) J. Pediatr. 144 2004 581-588
6. L.P. Winkel et. al. Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up Ann. Neurol. 55 2004 495-501
7. J. Muenzer J.C. Lamsa A. Garcia J. Dacosta J. Garcia D.A. Trecp Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report Acta Paediatr. Suppl. 92 2002 98-99
8. P. Harmatz et. al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) J. Pediatr. 144 2004 574-580
9. C. Robinson et. al. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment J. Inherit. Metab. Dis. 25 2002 681-693
10. K. Demuth D.P. Germain Endothelial markers and homocysteine in patients with classic Fabry disease Acta Paediatr. Suppl. 91 2002 57-61
11. H. Zhao L.A. Bailey G.A. Grabowski Enzyme therapy of Gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies Blood Cells Mol. Dis. 30 2003 90-96
12. P.E. Campbell C.M. Harris T. Sirimanna A. Vellodi A model of neuronopathic Gaucher disease J. Inherit. Metab. Dis. 26 2003 629-639
13. M.A. Cabrera-Salazar E. O'Rourke N. Henderson H. Wessel J.A. Barranger Correlation of surrogate markers of Gaucher disease: Implications for long-term follow up of enzyme replacement therapy Clin. Chim. Acta 344 2004 101-107
14. M. Jeyakumar et. al. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis Brain 126 2003 974-987
15. K. Horinouchi et. al. Acid sphingomyelinase deficient mice: A model of types A and B Niemann-Pick disease Nat. Genet. 10 1995 288-293
16. S.R. Miranda et. al. Bone marrow transplantation in acid sphingomyelinase-deficient mice: Engraftment and cell migration into the brain as a function of radiation, age, and phenotype Blood 90 1997 444-452
17. S.R. Miranda et. al. Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology FASEB J. 14 2000 1988-1995
18. S.R. Miranda S. Erlich V.L. Friedrich S. Gatt E.H. Schuchman Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease Gene Ther. 7 2000 1768-1776
19. M.A. Passini et. al. AAV-vector mediated correction of brain pathology in a mouse model of Niemann-Pick A disease Mol. Ther. 11 2005 754-762
20. R. Dhami X. He R.E. Gordon E.H. Schuchman Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase-deficient mouse model of Niemann-Pick disease Lab. Invest. 81 2001 987-999
21. J. Sarna S.R. Miranda E.H. Schuchman R. Hawkes Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease Eur. J. Neurosci. 13 2001 1873-1880
22. N.N. Aronson C.J. Blanchard J.D. Madura Homology modeling of glycosyl hydrolase family 18 enzymes and proteins J. Chem. Inf. Comput. Sci. 37 1997 999-1005
23. H.-K. Jin J.E. Carter G.W. Huntley E.H. Schuchman Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span J. Clin. Invest. 109 2002 1183-1191
24. K. White H.N. Munro Induction of ferritin subunit synthesis by iron is regulated at both the transcriptional and translational levels J. Biol. Chem. 263 1988 8938-8942
25. T. Dandekar et. al. Identification of a novel iron-responsive element in murine and human erythroid ä-aminolevulinic acid synthase mRNA EMBO J. 10 1991 1903-1909
26. H. Christomanou M.T. Vanier P. Santambrogio P. Arosio W.J. Kleijer K. Harzer Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group Mol. Genet. Metab. 70 2000 196-202
27. M. Lorber Adult-type Gaucher's disease: A secondary disorder of iron metabolism Mt. Sinai J. Med. 37 1970 404-417
28. M.D. Knutson M.R. Vafa D.J. Haile M. Wessling-Resnick Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages Blood 102 2003 4191-4197
29. R.G. Boot et. al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention Blood 103 2004 33-39
30. J. Brinkman et. al. Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease J. Inherit. Metab. Dis. 28 2005 13-20
31. B. Ma Z. Zhu R.J. Homer C. Gerard R. Strieter J.A. Elias The C10/CCL6 chemokine and CCR1 play critical roles in the pathogenesis of IL-13-induced inflammation and remodeling J. Immunol. 172 2004 1872-1881
32. J.L. Gao P.M. Murphy Cloning and differential tissue-specific expression of three mouse beta chemokine receptor-like genes including the gene for a functional macrophage inflammatory protein-1 alpha receptor J. Biol. Chem. 270 1995 17494-17501
33. M.T. Moran J.P. Schofield A.R. Hayman G.P. Shi E. Young T.M. Cox Pathologic gene expression in Gaucher disease: Up-regulation of cysteine proteinases including osteoclastic cathepsin K Blood 96 2000 1969-1978
34. G. Keyszer et. al. Matrix metalloproteinases, but not cathepsins BH and L or their inhibitors in peripheral blood of patients with rheumatoid arthritis are potentially useful markers of disease Z. Rheumatol. 57 1998 392-398
35. E. Malle F.C. De Beer Human serum amyloid A (SAA) protein: A prominent acute-phase reactant for clinical practice Eur. J. Clin. Invest. 26 1996 427-435
36. O. Rogowski et. al. Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model Blood Cells Mol. Dis. 34 2005 26-29
37. Y. Suzuki M. Nakayama Differential profiles of genes expressed in neonatal brain of 129X1/SvJ and C57BL/6J mice: A database to aid in analyzing DNA microarrays using nonisogenic gene-targeted mice DNA Res. 10 2003 263-275
38. W. Xiao N. Chirmule S.C. Berta B. McCullough G. Gao J.M. Wilson Gene therapy vectors based on adeno-associated virus type 1 J. Virol. 73 1999 3994-4003
39. C.R. O'Riordan A.L. Lachapelle K.A. Vincent S.C. Wadsworth Scaleable chromatographic purification process for recombinant adeno-associated virus J. Gene Med. 2 2000 444-454
40. K.R. Clark L. Xinglou J.P. McGrath P.R. Johnson Highly-purified recombinant adeno-associated virus vectors are biologically active and free of detectable helper and wild-type viruses Hum. Gene Ther. 10 1999 1031-1039