Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells

We report a gas chromatographic-mass spectrometric method which allows the very long chain fatty acids content of trophoblastic tissue to be directly measured in samples collected by biopsy between 8 and 11 weeks of gestation. This method has been successfully applied to the detection of fetal Zellweger syndrome in two pregnant women who had previously delivered affected infants. In one of them, increased concentrations of C26:0 (0.254 versus 0.108±0.035 μ/mg proteins) and C24:0 (1.32 versus 0.815±0.325 μ/mg proteins) in trophoblast indicated that the fetus had Zellweger syndrome, a diagnosis confirmed by pathological findings after abortion. In the second case, the pregnancy was allowed to proceed, on the basis of normal concentrations of very long chain fatty acids in trophoblastic tissue, and its outcome was actually a healthy newborn.     

Evolution and longevity-assurance processes

The role of the development of information fidelity systems in evolution is explored, with evidence that the loss in the ability to maintain the integrity of homeostasis in organisms over time, aging, is correlated with the loss in the ability to maintain integrity at the molecular biological level. Evolutionary-comparative analysis places an upper limit on the number of these systems important to the evolution of longevity in the primates, and suggests the importance of insuring the stability of information bearing macromolecules in evolution and the role of modulators of damage to these moieties in the expression of the senescent state