Sphingomyelinase, deficiency

Santana, P., Pena, L. A., Haimovitz-Fiiedman, A., Martin, S., Green, D. R., McLougUin, M., Cordon-Cardo, C., Schuchman, E. H., Fuks, Z., and Kolesnick, R., 1996, Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. Cell S6 189-199. 

Otterbach, B., and Stoffel, W., 1995, Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick). Cell 81 1053-1061. 

NIEMANN-PICK DISEASE ACID SPHINGOMYELINASE DEFICIENCY... 

Other sphingolipidoses like Niemann-Pick type A/ (sphingomyelinase deficiency) that could lead to impaired ceramide formation should be excluded. 

Pavlu-Pereira H, Asfaw B, Poupetova H, Ledvinova J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novaotna Z, Chudoba D, Elleder M (2005) Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis 28 203-227... 

However, very low plasma levels of HDL cholesterol are also found in patients with genetically disturbed metabolic pathways that are indirectly linked to HDL metabolism. For example, many patients with lipid storage diseases like Gaucher s disease (glucocerobrosidase deficiency, OMIM 230800-231000), Nieman-Pick disease types A or (sphingomyelinase deficiency, OMIM 257200 and 607616, respectively), Niemann-Pick disease type C (OMIM 257220), hypertriglyceridemia, or diabetes mellitus present with low HDL cholesterol [22]. 

Miranda, S. R., Erlich, S., Friedrich, V. L., Jr., Gatt, S. and Schuchman, E. H. (2000). 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, 1768-1776. 

Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH. Acid sphingomyelinase deficient mice a model of types A and B Niemann-Pick disease. Nat Genet 1995 10(3) 288-93. 

Studies with JB6 mouse epidermal cells demonstrated that resveratrol agly-cone-induced apoptosis in these cells was through p53 and that it was not dependent upon normal sphingomyelinase activity as the induction of apoptosis was observed in sphingomyelinase deficient and sufficient cell lines. Studies by Lu,... 

Schuchman, E. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inher Metabol Dis 30 (2007) 654-663. 

Schuchmann EH, Desnick RJ Niemann-Pick Diseases Type A and B Acid sphingomyelinase deficiencies, Vol. 2. New York McGraw Hill (1995) 2601-2624. 

Ng, C.G., and Griffin, D.E., Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis, J Virol, 80 (2006) 10989-10999. 

Otala, M., Pentikainen, M. O., Matikainen, T., Suomalainen, L., Hakala, J. K., Perez, G. I., Tenhunen, M., Erkkila, K., Kovanen, P., Parvinen, M. Dunkel, L. Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. Biol Reprod 72 (2005) 86-96. 

Niemann-Pick disease is an autosomal recessive disorder in which patients accumulate sphingomyelin and, to a lesser extenL cholesterol and other phospholipids within lyso-somes due to a deficiency of acid sphingomyelinase deficiency. While the monocyte/macrophage cell lineage is extensively affected, it is the accumulation within other cell... 

Niemann-Pick disease Acid sphingomyelinase deficiency Takahashi ei of., 1992... 

Caffeic acid phenethyl ester (CAPE), an active component extracted from honeybee propolis, blocks tumorigenesis in a two-stage model of mouse skin cancer that was promoted by treatment with TP A (49). The anti-cancer or antitumor promotion effects of CAPE may be based on their ability to induce apoptosis. We foimd that CAPE suppresses TPA-induced cell transformation and induced apoptosis in mouse epidermal JB6 Cl 41 cells (50). No difference in induction of apoptosis was observed between normal lymphoblasts and sphingomyelinase-deficient cell lines. Although CAPE treatment of two p53 mutant tumor cell lines, NCI-H358 and SK-OV-3, and p53 cells caused... 

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