Copper Transport and Its Disorders

This book is a compilation of presentations at the first meeting devoted to the mo lecular and cellular biology of copper transport. When we first considered the possible program for the meeting, we felt that a forum to integrate the recent advances in molecular understanding of copper transport with the older knowledge of copper metabolism was needed. In addition we wished to have a strong emphasis on the diseases of copper includ ing the genetic diseases, Menkes and Wilson, and other possible health aspects of this met al seen from a molecular perspective. Overall we were very happy with the success of the meeting, and most participants were very enthusiastic. Unfortunately we were not able to obtain manuscripts from every contributor, but the selection in this book covers most of the topics discussed. The history of biological research into copper dates from the latter half of the last century when the presence of copper as a component of living systems was first noted, but it was not until the 1920s that the essential role of copper was first recognized. l. S. McHargue found that plants and animals needed copper for optimal growth and health and proposed that copper was needed for life (McHargue, 1925). Other groups soon confirmed these observations in plants. In animals the requirement of copper for hematopoiesis was discovered in 1928 (Hart et aI.

Proceedings of a satellite meeting of the European Human Genetic Society held in Sestri Levante, Italy, May 21-25, 1997

1. Copper Transport in Mammals.- 2. Models to Evaluate Health Risks Derived from Copper Exposure/Intake in Humans.- 3. Cu Metabolism in the Liver.- 4. Multiple Forms of the Menkes Cu-ATPase.- 5. The Cell Biology of the Menkes Disease Protein.- 6. Functional Analysis of the Menkes Protein (MNK) Expressed from a cDNA Construct.- 7. Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease.- 8. Animal Models of Menkes Disease.- 9. Developmental Expression of the Mouse Mottled and Toxic Milk Genes.- 10. The Treatment of Wilson's Disease.- 11. Indian Childhood Cirrhosis and Tyrolean Childhood Cirrhosis: Disorders of a Copper Transport Gene?.- 12. Animal Models of Wilson's Disease.- 13. Copper-Binding Properties of the N-Terminus of the Menkes Protein.- 14. Expression, Purification, and Metal Binding Characteristics of the Putative Copper Binding Domain from the Wilson Disease Copper Transporting ATPase (ATP7B).- 15. Structure/Function Relationships in Ceruloplasmin.- 16. Autoxidation of Amyloid Precursor Protein and Formation of Reactive Oxygen Species.- 17. Copper-Zinc Superoxide Dismutase and ALS.- 18. A Study of the Dual Role of Copper in Superoxide Dismutase as Antioxidant and Pro-Oxidant in Cellular Models of Amyotrophic Lateral Sclerosis.- 19. The Effect of Copper on Tight Junctional Permeability in a Human Intestinal Cell Line (Caco-2).- 20. Metal Regulation of Metallothionein Gene Transcription in Mammals.- 21. Copper-Regulatory Domain Involved in Gene Expression.- 22. Intracellular Pathways of Copper Trafficking in Yeast and Humans.- 23. Copper Homeostasis in Enterococcus hirae.