title: Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
abstract: Pseudoxanthoma elasticum (PXE) is a relatively rare heritable disorder affecting 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 prototypic heritable connective tissue disorder affecting the elastic fiber system. 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 suggesting environmental, hormonal and/or dietary modulation of the disease, raises the intriguing possibility that PXE is a primary metabolic disorder at the environment-genome interface.
authors: Depts of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Pharmacology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA. Jouni.Uitto@mail.tju.edu
authors: J
authors: J
authors: Uitto
authors: L
authors: L
authors: Pulkkinen
authors: F
authors: F
authors: Ringpfeil
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000502:physiology; D017668:Age of Onset; D001693:Biological Transport, Active; D002319:Cardiovascular System / Q000473:pathology; D004549:Elastin / Q000378:metabolism; D004781:Environmental Exposure; D005123:Eye / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D010641:Phenotype; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D012737:Sex Factors; D012867:Skin / Q000473:pathology
chemical_list: D018528:ATP-Binding Cassette Transporters; D004549:Elastin; D027425:ATP-Binding Cassette, Sub-Family C Proteins