Linked Life Data

15266613

Source:http://linkedlifedata.com/resource/pubmed/id/15266613

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2004-7-21
pubmed:abstractText
Mutations in the gene encoding cartilage oligomeric matrix protein (COMP) cause two common skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). At present, diagnosis of these diseases is based primarily on clinical and radiographic findings and is sometimes erroneous, particularly in adult patients. However, genetic diagnosis is difficult, because COMP mutations are scattered throughout the gene and five additional disease genes for MED exist. There is evidence that circulating COMP may serve as a molecular indicator of a variety of diseases affecting cartilage. Therefore, we investigated plasma COMP concentrations in 21 patients with PSACH or MED. Of these, six PSACH and seven MED patients carried COMP mutations, and the remaining eight MED patients lacked mutations in COMP. We observed significantly decreased plasma COMP levels in patients with COMP mutations compared with controls (P < 0.0001). In addition, plasma COMP levels were significantly decreased in MED patients carrying mutations in COMP relative to those who lacked COMP mutations (P = 0.001). Our results indicate that circulating COMP levels reflect genetic abnormalities in COMP, providing an easier, more rapid and cost-efficient method for diagnosing PSACH and particularly for MED.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1552-4825
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
129A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
35-8
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
pubmed:affiliation
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't