The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.     

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Morphogene substanzen ausHydra

We use hydra as a model system to understand how growth and differentiation and, as a consequence of this, pattern formation are controlled at the molecular level. We have found that four substances control head and foot formation in hydra: an activator and an inhibitor of head formation and an activator and an inhibitor of foot formation. The two activators are peptides with molecular weights around 1000 daltons, the inhibitors are smaller in molecular weight (<500), have an overall positive charge and do not contain peptide bonds. In normal animals all four substances are present and most likely produced by nerve cells. We hope to understand how these substances act and interact to create the spatial and temporal pattern of growth and differentiation typical for hydra.