Sphingosylphosphorylcholine in Niemann-Pick Disease Brain: Accumulation in Type A But Not in Type B

摘要: A study of brain lipids in patients with the sphingomyelinase-deficient types Niemann-Pick disease demonstrated that abnormal accumulation sphingomyelin occurs only neuronopathic type but not non-neuronopathic B. Additional lipid abnormalities were present brain. In contrast, profile was normal B patients. Since lysosphingolipids have been implicated biochemical pathogenesis other genetic lysosomal sphingolipidoses, occurrence sphingosylphosphorylcholine (lysosphingomyelin) specifically investigated and extraneural tissues, using an HPLC method fluorescent detection orthophtalaldehyde derivatives. Levels close to or below limit (10 pmol/mg tissue protein) observed pathological controls. striking two (830 430 protein 27-and 16-month-old children severe milder neurological course, respectively), which at fetal stage disease. No significant increase found from a 3.5 year-old patient. liver spleen, abnormally high levels both disease, indication progressive during development. This establishes integrity suggests lysocompound could play role pathophysiology dysfunction A.