Inherited metabolic disease

摘要

The discovery of the genes responsible for many of the inherited metabolic disorders that affect the liver has rapidly advanced our basic understanding of the pathobiology of disease and has provided new insights into the normal physiologic function of the gene products. The focus of this section is genetic hemochromatosis, Wilson's disease, and alpha, - antitrypsin deficiency. A highlight of this year has been the discovery of the gene for genetic hemochromatosis and validation of animal models of this disorder. For Wilson's disease, work on development of new therapeutic treatments and diagnosis using molecular studies was reported. New insights into the pathogenesis of alpha,-antitrypsin disease derive from studies elucidating the molecular interactions of the mutant protein with cellular elements involved in the quality control system for protein production.