Linked Life Data

12099725

Source:http://linkedlifedata.com/resource/pubmed/id/12099725

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2002-7-8
pubmed:abstractText
Mutations in multiple sarcomeric proteins can cause familial hypertrophic cardiomyopathy. Although a M149V mutation in the myosin light chain is associated with the human disease, the data from transgenic (TG) mouse models are conflicting. When a human genomic fragment containing the M149V essential myosin light chain was used to generate TG mice, the phenotype was recapitulated. However, when the mouse cDNA containing the mutation was used to generate TG animals, no phenotype could be discerned. TG rabbits can be a valuable complement and extension to mouse-based TG models and we wished to determine whether expression of this mutation in the rabbit heart would result in the disease. The rabbit essential light chain cDNA was isolated, sequenced, the M149V mutation made and the cDNA placed into the beta-myosin heavy chain promoter, which efficiently drives cardiac expression in the rabbit ventricles. Multiple TG rabbit lines showing different levels of protein replacement were obtained. No discernible pattern of disease was apparent at the structural or functional levels at either the neonatal, juvenile or adult stages. We conclude that the M149V mutation is not causative for FHC when expressed in the rabbit within the context of the endogenous protein.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0022-2828
pubmed:author
pubmed:copyrightInfo
Copyright 2002 Elsevier Science Ltd. All rights reserved.
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
873-82
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Transgenic rabbits expressing mutant essential light chain do not develop hypertrophic cardiomyopathy.
pubmed:affiliation
Children's Hospital Research Foundation, Cincinnati, Ohio, 45229-3039, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.