A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells.
In this paper we show that whereas acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membrane-bound peroxisomal enzyme, is deficient in homogenates of cultured amniotic fluid cells of fetuses with Zellweger syndrome, catalase a soluble peroxisomal matrix enzyme is present in normal amounts. Digitonin titration experiments revealed a striking difference in the percentage of particle-bound catalase in control and Zellweger amniocytes: in Zellweger amniocytes all catalase activity was found to be present in the soluble cytoplasm, (less than 5% particle-bound), whereas in control amniocytes catalase was found to be predominantly particle-bound (62% +/- 8%, n = 5). Measurement of the percentage of particle-bound catalase by means of digitonin titrations thus provides a simple prenatal test for Zellweger syndrome via the direct demonstration of the presence or absence of catalase-containing particles (peroxisomes).
D000217:Acyltransferases / Q000032:analysis; D000653:Amniotic Fluid / Q000166:cytology*; D002374:Catalase / Q000032:analysis; D002478:Cells, Cultured; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006529:Hepatomegaly / Q000175:diagnosis*; D006801:Humans; D008830:Microbodies; D007690:Polycystic Kidney Diseases / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D002374:Catalase; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase