Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases

Chemistry and Physics of Lipids

Volumn 102, Issue 1-2, 1999, Pages 179-188

  Schuchman, Edward H ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Acid sphingomyelinase; Gene therapy; Hematopoietic stem cells; Lysosomal storage diseases; Niemann Pick disease

Indexed keywords

LYSOSOME ENZYME; SPHINGOMYELIN; SPHINGOMYELIN PHOSPHODIESTERASE;

BONE MARROW; GENE THERAPY; GENE TRANSFER; HEMATOPOIETIC STEM CELL; HUMAN; LYSOSOME STORAGE DISEASE; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; PRIORITY JOURNAL; REVIEW; STEM CELL;

ANIMALIA; MURINAE;

EID: 0032840721     PISSN: 00093084     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-3084(99)00086-9     Document Type: Article

References (25)

1. Beaudet A.L., Scriver C.R., Sly W.S., Valle D. Genetics, biochemistry, and molecular basis of variant human phenotypes. Beaudet A.L., Scriver C.R., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1995;53-229 McGraw-Hill, New York.
2. Berenson R.J. Transplantation of CD34+ hematopoietic precursors: clinical rationale. Transpl. Proc. 24:1992;3032-3034.
3. Beutler E. Enzyme replacement therapy for Gaucher's disease. Baillieres Clin. Haematol. 10:1997;751-763.
4. Bodine D.M., Karlsson S., Nienhuis A.W. Combination of interleukins 3 and 6 perserves stem cell function in culture and enhances retrovirus-mediated gene transfer into hematopoietic stem cells. Proc. Natl. Acad. Sci. USA. 86:1989;8897-8901.
5. Broxmeyer H.E., Douglas G.W, Hangoc G., Cooper S., Bard J., English D., Arny M., Thomas L., Boyse E.A. Human umbilical cord blood as a source of transplantable hematopoietic stem and progenitor cells. Curr. Top. Microbiol. Immunol. 177:1992;195-204.
6. Chu P., Lutzko C., Stewart A.K., Dube I.D. Retrovirus-mediated gene transfer into human hematopoietic stem cells. J. Mol. Med. 76:1998;184-192.
7. Conneally E., Bardy P.C., Eaves J., Thomas T., Chappel S., Shapall E.J., Humphries R.K. Rapid and efficient selection of human hematopoietic cells expressing murine heat-stable antigen as an indicator of retroviral-mediated gene transfer. Blood. 87:1996;456-465.
8. Dinur T., Schuchman E.H., Fibach E., Dagan A., Suchi M., Desnick R.J., Gatt S. Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin. Hum. Gene Ther. 3:1992;633-639.
9. Eaves C.J., Sutherland H.J., Udomsakdi C., Lansdorp P.M., Szilvassy S.J., Fraser C.C., Humphries R.K., Barnett M.J., Phillips G.L., Eaves A.C. The human hematopoietic stem cell in vitro and in vivo. Blood Cells. 18:1992;301-307.
10. Erlich S., Miranda S.R.P., Visseer J.W.M., Dagan A., Gatt S., Schuchman E.H. Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures. Blood. 93:1999;80-86.
11. Gatt S., Dinur T., Barenholz Y. A fluorometric determination of sphingomyelinase by use of fluorescent derivatives of sphingomyelin, and its application to diagnosis of Niemann-Pick disease. Clin. Chem. 26:1980;93-100.
12. Haskins M., Abkowitz J., Aguirre G., Casal M., Evans S., Hasson C., Just C., Lexa F., Miranda S., Schuchman E., Simonaro C., Thrall M.A., Wang P., Weil M., Wiemelt S., Wolfe J., Patterson D. Bone marrow transplantation in animal models of lysosomal storage diseases. Cogent. IV:1997;1-11.
13. Holtzman E. Storage diseases. Siekevitz P. Lysosomes. 1989;344-356 Plenum Press, New York.
14. Horinouchi K., Erlich S., Perl D.P., Ferlinz K., Bisgaier C.L., Sandhoff K., Desnick R.J., Stewart C.L., Schuchman E.H. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat. Genet. 10:1995;288-293.
15. Karlsson S. Gene therapy of haematopoietic cells. J. Intern. Med. Suppl. 740:1997;95-99.
16. Klar R., Levade T., Gatt S. Synthesis of pyrensulfonylamido sphingomyelin and its use as substrate for determining sphingomyelinase activity and diagnosing Niemann-Pick disease. Clin. Chim. Acta. 176:1988;259-268.
17. Krivit W., Shapiro E., Lockman L., Balthazor M., Wagner J., Peters C., Anderson J., Loes D. Bone marrow transplantation treatment for globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, and Hurler syndrome. Moser H. Neurodystrophies and Neurolipidoses, Handbook of Clinical Neurology. 22:1996;87-95 Elsevier, Amsterdam, The Netherlands.
18. Miranda S.R.P., Erlich S., Visser J.W.M., Gatt S., Dagan A., Friedrich V.L. Jr, Schuchman E.H. 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.
19. Miranda S.R.P., Erlich S., Friedrich V.L. Jr, Haskins M.E., Gatt S., Schuchman E.H. Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase deficient mice. Transplantation. 65:1998;884-892.
20. Otterbach E., Stoffel W. Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). Cell. 81:1995;1053-1061.
21. Persons D.A., Allay J.A., Allay E.R., Smeyne R.J., Ashmun R.A., Sorentino B.P., Nienhuis A.W. Retroviral-mediated transfer of the green fluorescence protein gene into murine hematopoietic cells facilitates scoring and selection of transduced progenitors in vitro and identification of genetically modified cells in vivo. Blood. 90:1997;1777-1789.
22. Peters C., Shapiro E.G., Anderson J., Henslee-Downey P.J., Klemperer M.R., Cowan M.J., Saunders E.F., deAlarcon P.A., Twist C., Nachman J.B., Hale G.A., Harris R.E., Rozans M.K., Kurtzberg J., Grayson G.H., Williams T.E., Lenarsky C., Wagner J.E., Krivit W. Hurler syndrome: II. Outcome of HLA-genotypically identical and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood. 91:1998;2601-2608.
23. Schuchman E.H., Desnick R.J. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. Beaudet A.L., Scriver C.R., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1995;2601-2624 McGraw-Hill, New York.
24. Schuening F.G., Kawahara K., Miller A.D., To R., Goehle S. et al. Retrovirus mediated gene transduction into long term repopulating marrow cells of dogs. Blood. 78:1991;2568-2573.
25. Yeyati P.L., Agmon V., Fillat C., Dinur T., Dagan A., Desnick R.J., Gatt S., Schuchman E.H. Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction. Hum. Gene Ther. 6:1995;975-983.