期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 28, 期 5, 页码 733-741出版社
WILEY
DOI: 10.1007/s10545-005-0105-y
关键词
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6-Hexadecanoylamino-4-methylumbelliferylphosphorylcholine (HMU-PC) was shown to be a specific substrate for the determination of acid (lysosomal) sphingomyelinase (ASM; gene SMPD1). Fibroblasts (n = 27) and leukocytes ( n = 8) from both the A and B types of Niemann-Pick disease showed <6% and <10% of mean normal ASM activity, respectively. Niemann-Pick A or B patients bearing the Q292K mutation had apparently normal ASM activity with our new artificial substrate. These patients with false-normal sphingomyelinase activity, however, could readily be detected by determining the extent of inhibition of enzymatic hydrolysis of the artificial substrate HMU-PC by an unlabelled natural substrate, in particular lysosphingomyelin. This approach is generally applicable. Our novel assay for ASM combines the ease of a rapid and robust enzyme assay using a fluorogenic substrate with the specificity of an ASM assay using a natural substrate. Such assays are obviously more convenient to the diagnostic laboratory, since radiolabelled substrates are not required.
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