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.     

Buchbesprechungen

The Science of Nature -     

Haithabu — Entdeckung neuer Funde durch hochauflösende kleinseismische Messungen

A high-precision seismic reflection method has been developed for investigating archeological objects which are hidden in a mud-layer of the Haddebyer Noor, a lake in front of the old Viking settlement Haithabu near Schleswig. Wooden and metallic objects larger than about 30 cm could be detected and mapped. Some of the mapped objects have been rescued by diving operations. Others, like wooden harbour constructions of unexpectedly large dimensions, and a large (second) shipwrack were left conserved in the mud. All finds provide a new picture of this old Viking settlement showing that its inhabitants had a far higher stage of development than hitherto suspected.     

More news about quarks

The “constituents” quarks and leptons of matter (with rest-mass) are compared with the historical development of “elements” in chemistry. If unsaturated quarks induce high (and at the moment unpredictable) rest-masses above l0GeV, we have a new view of nuclei comprising (2Z + N) u-quarks and (Z +2N) d-quarks in their low-energy states, without any reference to protons and neutrons as permanent building-blocks. Recent studies of quarks and possible rishons (sub-quarks) and technicolour hadrons are reviewed, and the rôle of identity and cardinality in quantum mechanics analyzed.