| Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. | |
| | |
MedLine Citation:
|
PMID: 12850230 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Pseudoxanthoma elasticum is an autosomally inherited disorder that is associated with the accumulation of mineralized and fragmented elastic fibers in the skin, Bruch's membrane in the retina, and vessel walls. The ophthalmic and dermatologic expression of pseudoxanthoma elasticum and its vascular complications are heterogeneous, with considerable variation in phenotype, progression, and mode of inheritance. Using linkage analysis and mutation detection techniques, mutations in the ABCC6 gene were recently implicated in the etiology of pseudoxanthoma elasticum. ABCC6 encodes the sixth member of the ATP-binding cassette transporter and multidrug resistance protein family (MRP6). In humans, this transmembrane protein is highly expressed in the liver and kidney. Lower expression was found in tissues affected by pseudoxanthoma elasticum, including skin, retina, and vessel walls. So far, the substrates transported by the ABCC6 protein and its physiological role in the etiology of pseudoxanthoma elasticum are not known. A functional transport study of rat MRP6 suggests that small peptides such as the endothelin receptor antagonist BQ123 are transported by MRP6. Similar molecules transported by ABCC6 in humans may be essential for extracellular matrix deposition or turnover of connective tissue at specific sites in the body. One of these sites is Bruch's membrane. This review is an update on etiology of pseudoxanthoma elasticum, including its clinical and genetic features, pathogenesis, and biomolecular basis. |
| | |
Authors:
|
Xiaofeng Hu; Astrid S Plomp; Simone van Soest; Jan Wijnholds; Paulus T V M de Jong; Arthur A B Bergen |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Survey of ophthalmology Volume: 48 ISSN: 0039-6257 ISO Abbreviation: Surv Ophthalmol Publication Date: 2003 Jul-Aug |
Date Detail:
|
Created Date: 2003-07-09 Completed Date: 2003-10-02 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 0404551 Medline TA: Surv Ophthalmol Country: United States |
Other Details:
|
Languages: eng Pagination: 424-38 Citation Subset: IM |
Affiliation:
|
Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals Humans Molecular Biology Multidrug Resistance-Associated Proteins / genetics* Mutation* Pseudoxanthoma Elasticum / genetics*, pathology* Retinal Diseases / genetics, pathology |
| Chemical | |
Reg. No./Substance:
|
0/ABCC6 protein, human; 0/Multidrug Resistance-Associated Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Endogenous bacterial endophthalmitis: a 17-year prospective series and review of 267 reported cases.
Next Document: Eccrine duct carcinoma of the eyelid mimicking meibomian carcinoma: clinicopathological study of a c...