Pseudoxanthoma elasticum: a metabolic disease?
Pseudoxanthoma elasticum (PXE), a pleiotropic multisystem disorder affecting the skin, eyes, and cardiovascular system, is caused by mutations in the ABCC6/MRP6 expressed primarily in the liver. A question has arisen regarding the pathomechanism of PXE, particularly the "metabolic" versus the "PXE cell" hypotheses. Le Saux et al. have now provided partial support for the notion that PXE is primarily a metabolic disorder.
Jiang
Qiujie
Q
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
Uitto
Jouni
J
D004547:Elastic Tissue / Q000378:metabolism; D005109:Extracellular Matrix / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000737:chemistry / Q000473:pathology; D008659:Metabolic Diseases / Q000097:blood* / Q000235:genetics / Q000503:physiopathology*; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000032:analysis / Q000235:genetics / Q000502:physiology; D009154:Mutation; D011561:Pseudoxanthoma Elasticum / Q000097:blood* / Q000235:genetics / Q000503:physiopathology*; D015203:Reproducibility of Results
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human