Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

Pseudoxanthoma elasticum (PXE) is a relatively rare heritable disorder affe cting the skin, eyes and cardiovascular system, with considerable morbidity and mortality. The disease affects the elastic fibers of affected organs, which become progressively calcified. Thus. PXE has been considered as a pr ototypic heritable connective tissue disorder affecting the elastic fiber s ystem. Recently, PXE has been linked to mutations in the MRP6/ABCC6 gene, a member of the ABC transporter family, expressed primarily in the liver and the kidneys. This information, together with clinical observations suggest ing environmental, hormonal and/or dietary modulation of the disease, raise s the intriguing possibility that PXE is a primary metabolic disorder at th e environment-genome interface.