Linked Life Data

17560579

Source:http://linkedlifedata.com/resource/pubmed/id/17560579

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-2-25
pubmed:abstractText
Tangier disease (TD) is a rare familial disorder with mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. It results in extremely low levels of HDL cholesterol. Since TD is a genetic disorder, a therapeutic approach to TD has not been established. We report a typical case of TD with a homozygous novel point mutation in the ABCA1 gene by using genomic DNA sequencing. Primary monocyte-derived macrophages of blood from a patient with TD and normolipidemic subjects were compared for cholesterol efflux. The macrophages from the TD patient showed no apoA-I-mediated cholesterol efflux. In contrast, POPC/apoA-I discs were able to take up cholesterol from macrophages from both the TD and normolipidemic subject. Capillary isotachophoresis (cITP), which separates lipoprotein into subfractions according to electrophoretic mobility, was used to characterize plasma lipoprotein subfractions. Both slow-migrating HDL (sHDL) and slow-migrating LDL (sLDL; unmodified LDL) subfractions were extremely low in the patient with TD. After incubation of plasma from the TD patient with POPC/apoA-I discs, sHDL and sLDL subfractions rapidly appeared. In conclusion, POPC/apoA-I discs not only have beneficial effects on cholesterol efflux, but also have potential as a lipoprotein modulator in patients with TD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1879-1484
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
197
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
283-9
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease.
pubmed:affiliation
Department of Neurology and Healthcare, Fukuoka University Hospital, 7-45-1 Nanakuma, Jonan-ku, 814-0180 Fukuoka, Japan. ueharay@fukuoka-u.ac.jp
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't