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

• Published in: European journal of pediatrics Vol. 145; no. 1-2; p. 136
• Main Authors: Wanders, R J, Schrakamp, G, van den Bosch, H, Tager, J M, Schutgens, R B
• Format: Journal Article
• Language: English
• Published: Germany 01.04.1986
• Subjects: Acyltransferases - analysis; Amniotic Fluid - cytology; Catalase - analysis; Cells, Cultured; Facial Bones - abnormalities; Female; Genetic Diseases, Inborn - diagnosis; Hepatomegaly - diagnosis; Humans; Microbodies; Polycystic Kidney Diseases - diagnosis; Pregnancy; Prenatal Diagnosis; Skull - abnormalities; Syndrome
• ISSN: 0340-6199
• DOI: 10.1007/BF00441876

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).