Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns
| Autor: | Chang Xue, František Tureček, Mariana Barcenas, Tatyana Marushchak-Vlaskin, Michael H. Gelb, C. Ronald Scott |
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| Rok vydání: | 2014 |
| Předmět: |
Mass spectrometry
Tandem mass spectrometry Tripeptidyl peptidase Infant Newborn Diseases Article Analytical Chemistry 03 medical and health sciences 0302 clinical medicine Neuronal Ceroid-Lipofuscinoses Tandem Mass Spectrometry Humans Palmitoyl protein thioesterase 030304 developmental biology 0303 health sciences Newborn screening Chromatography biology Tripeptidyl-Peptidase 1 Chemistry Selected reaction monitoring Infant Newborn PPT1 Reference Standards Enzyme assay Biochemistry biology.protein Thiolester Hydrolases 030217 neurology & neurosurgery |
| Zdroj: | Analytical Chemistry |
| ISSN: | 1520-6882 |
| Popis: | We report new substrates for quantitative enzyme activity measurements of human palmitoyl protein thioesterase (PPT1) and tripeptidyl peptidase (TPP1) in dried blood spots from newborns using tandem mass spectrometry. Deficiencies in these enzyme activities due to inborn errors of metabolism cause neuronal ceroid lipofuscinoses. The assays use synthetic compounds that were designed to mimic the natural substrates. Incubation produces nanomole quantities of enzymatic products per a blood spot that are quantified by tandem mass spectrometry using synthetic internal standards and selected reaction monitoring. The assays utilize a minimum steps for sample workup and can be run in a duplex format for the detection of neuronal ceroid lipofuscinoses or potentially multiplexed with other mass spectrometry-based assays for newborn screening of lysosomal storage disorders. |
| Databáze: | OpenAIRE |
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