Linked Life Data

14649332

Source:http://linkedlifedata.com/resource/pubmed/id/14649332

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2003-11-27
pubmed:databankReference
pubmed:abstractText
Sitosterolemia (OMIM 210250) is a rare, autosomal recessive lipid disorder initially described almost 30 years ago. The disease is characterized by elevated plasma levels of plant sterols due to increased intestinal absorption and reduced biliary secretion of neutral sterols. Patients with sitosterolemia are frequently hypercholesterolemic, and develop xanthomas and premature coronary heart disease (CHD). Hemolysis, arthralgias and arthritis are also frequently associated with the disorder. Recently, sitosterolemia has been revealed to be due to mutations in either of the two ATP-binding cassette (ABC) half-transporters. ABCG5 or ABCG8. These two genes are expressed almost exclusively in the liver and intestine, and are co-regulated by the nuclear hormone receptor, liver X receptor (LXR). Genetically modified mice, which express either high levels or no ABCG5 and ABCG8 have been developed. Analyses of these mice confirm that these two transporters play key roles in regulating the absorption of dietary and biliary sterols, and in mediating the excretion of neutral sterols from the liver to the bile. The elucidation of the gene defects responsible for sitosterolemia provides potential therapeutic targets for the treatment of hyperlipidemias in the general population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0785-3890
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
502-11
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism.
pubmed:affiliation
Department of Medical Genetics, Ullevaal University Hospital, Kirkeveien 166, NO-0407 Oslo, Norway. KnutErik.Berge@ulleval.no
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't