Abstract
Deficiency of specific lysosomal enzymes have been increasingly implicated in childhood storage diseases and the activity of these enzymes in cultured amniotic fluid cells has been used as an indicator of fetal genotype. To establish the time of expression of the genes for lysosomal enzymes during early human development, the activity and electrophoretic mobility of selected lysosomal enzymes were determined in fetal liver between 40 and 156 days' gestation and compared to infant and adult values. Only fetal liver obtained from therapeutic abortions performed by hysterotomy and dated by crown-rump measurements was selected. β-Glucosidase, β-glucuronidase, N-acetyl-glycosaminidase, α-glucosidase and β-galactosidase were assayed using their respective p-nitrophenol substractes. Activity of each enzymes was present in the earlies specimens and the specific activity remained constant between the 5th and 22nd week of gestation and were similar to those measured in infant and adult livers. Starch-gel electrophoresis was performed on those two enzymes, β-galactosidase and N-acetyl-glucosaminidase, known to have more than a single molecular form; there was no difference in their electrophoretic patterns during development.
This study established that for the five lysosomal enzymes measured the genes controlling their expression were functioning as early as 40 days' gestation. Detection of hereditary disorders related to these enzymes could theoretically be accomplished as early as five weeks.
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Scott, C., Clark, S., O'Brien, J. et al. Early fetal expression of genes for lysosomal enzymes. Pediatr Res 5, 416–417 (1971). https://doi.org/10.1203/00006450-197108000-00190
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DOI: https://doi.org/10.1203/00006450-197108000-00190