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Sphingomyelinase of Human Tissues

  • Shuichi Yamaguchi
  • Kunihiko Suzuki
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 101)

Abstract

Sphingomyelinase (sphingomyelin phosphodiesterase, E.C. 3.1.4. 12) catalyzes hydrolysis of sphingomyelin to ceramide and phosphorylcholine. A genetic deficiency of this enzyme characterizes at least two distinct clinical forms of Niemann-Pick disease (Crocker’s Type A and Type B (1)). Patients with the Type A disease exhibit severe neurological manifestations, while patients with the Type B disease are completely intact neurologically. The systemic accumulations of sphingomyelin are similar in the two types. The degree of the sphingomyelinase deficiency in the liver, spleen, leukocytes, or fibroblasts is similar in both of the clinical types and does not appear to explain the dramatic phenotypic difference (2). An alternative possibility would be that sphingomyelinase might be organ-specific in itself or in the distribution of isozymes and that different mutations can cause differential inactivation of the enzyme in different organs. In addition to the above sphingomyelinase with the acidic pH optimum, there is another enzyme which also hydrolyzes sphingomyelin but at neutral pH in the presence of magnesium ions (3–5). The relationship, if any, of this magnesium-dependent neutral sphingomyelinase to either the acidic sphingomyelinase or NiemannPick disease is not clear at the present time.

Keywords

Magnesium Chloride Purification Factor Neutral Sphingomyelinase Sodium Chloride Gradient Sphingomyelin Phosphodiesterase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1978

Authors and Affiliations

  • Shuichi Yamaguchi
    • 1
    • 2
  • Kunihiko Suzuki
    • 2
    • 1
  1. 1.Department of NeuroscienceThe Saul R. Korey Department of NeurologyBronxUSA
  2. 2.Rose F. Kennedy Center for Research in Mental Retardation and Human DevelopmentAlbert Einstein College of MedicineBronxUSA

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