Linked Life Data

16871402

Source:http://linkedlifedata.com/resource/pubmed/id/16871402

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-8-25
pubmed:abstractText
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited systemic vascular disorder characterized by recurrent subcortical ischemic strokes leading to vascular dementia. The gold standard to confirm the diagnosis is to identify a mutation in the underlying gene NOTCH3, encoding a transmembrane receptor protein. Granular osmiophilic material (GOM) deposition around vascular smooth muscle cells is a specific diagnostic feature of CADASIL and electron microscopic examination of a skin biopsy is another useful method for its diagnosis. Although accumulation of Notch3 ectodomain on the surface of vascular smooth muscle cells has been reported, the composition of GOM has not been elucidated. To elucidate the relationship between Notch3 protein and GOM, we performed postembedding immunogold electron microscopy using cryofixed and freeze substituted skin taken from two CADASIL patients. Our results demonstrate that GOM around vascular smooth muscle cells was specifically labeled with antibodies against the extracellular portion of Notch3 but not with antibodies recognizing the intracellular Notch3 domain. In non-CADASIL skin sections, no antibody binding was detected around the small dermal arteries. From these results, the major component of GOM in CADASIL patients is the ectodomain of the Notch3 gene product. Our results shed light on the relationship between Notch3 gene mutations and morphological deposition of GOM around the vascular smooth muscle cells.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0001-6322
pubmed:author
pubmed:issnType
Print
pubmed:volume
112
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
333-9
pubmed:dateRevised
2007-11-9
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL.
pubmed:affiliation
Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160-8582, Japan. ishiko@sc.itc.keio.ac.jp
pubmed:publicationType
Journal Article, Case Reports