Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.     

Valuing welfare impacts of climate change in coastal areas: a French case study

Beach protection has become a major issue in reducing coastal risks (erosion and flooding). It is thus advisable to study residents’ preferences for mitigation strategies. Willingness-to-pay (WTP) by permanent and secondary residents for flood protection provided to properties by Languedoc-Roussillon beaches (French Mediterranean coast) is investigated by a contingent valuation study. Results show that WTP is more influenced by risk perception variables than by socio-economic ones. The WTP is then extrapolated on the basis of different adaptation strategies (laissez-faire, managed retreat, denial etc.) which provided information about expected damage associated with sea level rise at the 2100 time horizon.