Niemann Sphingomyelin

Niemann-Pick disease Sphingomyeiinase Cer-i-P—choline Sphingomyelin Enlarged liver and spleen, mental retardation fatal in early life. 

It was also demonstrated that ceramides derived from sphingomyelin breakdown mediated by ASM are used for ganglioside biosynthesis, up to the generation of GD3. Indeed, lymphoblastoid cells derived from Niemann-... 

Niemann-Pick Sphingomyelinase Sphingomyelin Hepatosplenomegaly Microcephaly, severe mental retardation Zebra bodies in inclusions Characteristic foamy macrophages Early death... 

For example, Niemann-Piclc disease is caused by a rare genetic defect in the enzyme sphingomyelinase, which cleaves phosphocholine from sphingomyelin. Sphingomyelin accumulates in the brain, spleen, and liver. The disease becomes evident in infants, and causes mental retardation and early death. More common is Tay-Sachs disease, in which ganglioside GM2 accumulates in the brain and spleen (Fig. 2) owing to lack of the enzyme hexosaminidase A. The symptoms of Tay-Sachs disease are progressive retardation in development, paralysis, blindness, and death by the age of 3 or 4 years. 

Acid sphingomyelinase is a lysosomal enzyme that catalyzes the breakdown of sphingomyelin to ceramide and phosphoryl-choline.A deficiency of this enzyme leads to lysosomal accumulation of sphingomyelin in patients with Niemann-Pick disease. Recent data indicate that correct intracellular targeting of acid sphingomyelinase to lysosomes is dependent on the mannose 6-phosphate-mediated pathway. Does this imply that the I-cell patient will present with Niemann-Pick symptoms Can I-cell disease be viewed as a constellation of many lysosomal storage diseases ... 

Sphingomyelin Niemann-Pick disease types A tind B Sphingomyelinase llpl5.1-15.4... 

Cholesterol, sphingomyelin, GM2-gangliosides G. Monosaccraides/amino acid/monomers Niemann-Pick disease type C NPC1 HE1 18qll-12 14q24.3... 

Harzer K, Massenkeil G, Frohlich E. Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders. EEBS Lett. 2003 537 177-181. 

G-3) Niemann-Pick Dbease. Sphingomyelin collects in the brain due to a deficiency in sphingomyelinase, which normally removes phosphorocholine from sphingomyelin. Among other Uiings, there are mental retardation and early childhood death. 

In 1914 A. Niemann described a type of storage disease which, however, he did not recognize. In 1926 L. Pick differentiated this clinical picture from Gaucher s disease and called it lipid cellular splenomegaly . The substance predominantly stored was identified as sphingomyelin by E. Klenk in 1934. Thus, this condition is a kind of phosphoryl ceramidosis. 

Niemann-Pick disease Sphingomyelinase Accumulation of sphingomyelin... 

Niemann-Pick disease Mental retardation Sphingomyelin Sphingomyelinase... 

Of the four subtypes of Niemann-Pick disease, type A is the most severe. It is inherited as a recessive disorder (i.e., a defective copy of the gene must be inherited from each parent) that results in an absence of the enzyme sphingomyelinase. The absence of this enzyme causes the storage of large amounts of sphingomyelin and cholesterol in the brain, bone marrow, liver, and spleen. 

Niemann-Pick A, B C Sphingomyelinase Mutation in NPCl or NPC2 gene Sphingomyelin Cholesterol, bismono-acylglycerol phosphate GM2, GM3 GM2, GM3, (GMl)... 

Importantly, March and co-workers (Lee et al., 2006) recently reported that increased sphingomyelin content impairs high-density lipoprotein (HDL) biogenesis and maturation in human Niemann-Pick disease type B patients which feature highly reduced ASMase activity. Since HDL is atheroprotective, it... 

Lee, C.Y., Lesimple, A., Denis, M., Vincent, J., Larsen, A., Mamer, O., Krimbou, L., Genest, J., and Marcil, M., Increased sphingomyelin content impairs HDL biogenesis and maturation in human Niemann-Pick disease type B, J Lipid Res, 47 (2006) 622-632. 

Tay-Sachs Gaucher s Niemann-Pick Brain Spleen, Uver Several, particularly liver and spleen Glycolipid (gangUoside G t) Cerebrosides containmg glucose Sphingomyelins... 

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 Liver and spleen enlargement, mental retardation, about 30% with red spot in retina Sphingomyelin Sphingomyelinase... 

The striking biochemical alteration in Niemann-Pick disease is the accumulation of lipoid material in the involved tissues, where the total lipid content may be two, three, or even four times the normal. After the accumulating lipid was fractionated, it was established that sphingomyelin loads the cells. 

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