Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency

NADH:ubiquinone oxidoreductase (complex I of the mitochondrial respiratory chain) deficiency is a severe disorder with an often early fatal outcome. Prenatal diagnosis for complex I defects currently relies mainly on biochemical assays of complex I in fetal tissues such as chorionic villi (CV), and is only in a minority of cases possible by means of mutational analysis of nuclear-encoded genes of complex I. We report on our experience to date with prenatal diagnosis in pregnancies at risk for complex I deficiency. We measured complex I activity in native CV and/or cultured CV in 23 pregnancies in 15 families. In accordance with the results of the investigations in CV, 15 children were born clinically unaffected. Two prenatally diagnosed unaffected fetuses and two prenatally diagnosed affected fetuses were lost prematurely with spontaneous or provoked abortions, respectively. Two affected children were born (prenatally found to be affected). In two pregnancies a discrepancy between native and cultured cells was found. We conclude that prenatal diagnosis for complex I deficiency can be reliably performed. Pitfalls were encountered in using cultured CV as a result of maternal cell contamination (MCC). Future research on pathogenic nuclear mutations underlying complex I deficiency will extend the possibilities for prenatal diagnosis at the molecular level. Copyright © 2001 John Wiley & Sons, Ltd.     

Handling intensity and the short- and long-term survival of elephant seals: addressing and quantifying research effects on wild animals

This study addresses the consequences of repeated human handling on the survival of an endangered phocid, the southern elephant seal and the implications for wildlife research. Southern elephant seal pups were repeatedly handled during the first six weeks of their lives. The possibility that such anthropogenic research may have altered the very parameters that were being investigated is a topical and relevant study area that we address here. Our results show that there were no measurable effects on pups that were repeatedly handled and subjected to invasive research methods with respect to survivorship in the short term (the 24-day nursing period) nor in the long term (the first year of life and beyond) and hence fitness one year after handling. In support of this conclusion we were unable to detect any significant differences in the survival rates of the most intensively handled seals and the least intensively handled seals.