Linked Life Data

17664396

Source:http://linkedlifedata.com/resource/pubmed/id/17664396

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2007-8-23
pubmed:abstractText
Primary systemic carnitine deficiency is an autosomal recessive disorder caused by a decreased renal reabsorption of carnitine because of mutations of the carnitine transporter OCTN2 gene, and hypertrophic cardiomyopathy is a common clinical feature of homozygotes. Although heterozygotes for OCTN2 mutations are generally healthy with normal cardiac performance, heterozygotes may be at risk for cardiomyopathy in the presence of additional risk factors, such as hypertension. To test this hypothesis, we investigated the effects of surgically induced pressure overload on the hearts of heterozygous mutants of a murine model of OCTN2 mutation, juvenile visceral steatosis mouse (jvs/+). Eleven-week-old jvs/+ mice and age-matched wild-type mice were used. At baseline, there were no differences in physical characteristics between wild-type and jvs/+ mice. However, plasma and myocardial total carnitine levels in jvs/+ mice were lower than in wild-type mice. Both wild-type and jvs/+ mice were subjected to ascending aortic constriction with or without 1% l-carnitine supplementation for 4 weeks. At 4 weeks after ascending aortic constriction, jvs/+ mice showed an exaggeration of cardiac hypertrophy and pulmonary congestion, further increased gene expression of atrial natriuretic peptide in the left ventricles, further deterioration of left ventricular fractional shortening, reduced myocardial phosphocreatine:adenosine triphosphate ratio, and increased mortality compared with wild-type mice; l-carnitine supplementation prevented these changes in jvs/+ mice subjected to ascending aortic constriction. In conclusion, cardiomyopathy and heart failure with energy depletion may be induced by pressure overload in heterozygotes for OCTN2 mutations and could be prevented by l-carnitine supplementation.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1524-4563
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
497-502
pubmed:meshHeading
pubmed-meshheading:17664396-Adenosine Triphosphate, pubmed-meshheading:17664396-Animals, pubmed-meshheading:17664396-Aorta, pubmed-meshheading:17664396-Atrial Natriuretic Factor, pubmed-meshheading:17664396-Blood Pressure, pubmed-meshheading:17664396-Cardiomegaly, pubmed-meshheading:17664396-Cardiomyopathies, pubmed-meshheading:17664396-Carnitine, pubmed-meshheading:17664396-Constriction, pubmed-meshheading:17664396-Echocardiography, pubmed-meshheading:17664396-Genetic Predisposition to Disease, pubmed-meshheading:17664396-Heterozygote, pubmed-meshheading:17664396-Hypertension, pubmed-meshheading:17664396-Lung, pubmed-meshheading:17664396-Male, pubmed-meshheading:17664396-Mice, pubmed-meshheading:17664396-Mice, Mutant Strains, pubmed-meshheading:17664396-Mutation, pubmed-meshheading:17664396-Myocardium, pubmed-meshheading:17664396-Organ Size, pubmed-meshheading:17664396-Organic Cation Transport Proteins, pubmed-meshheading:17664396-Phosphocreatine, pubmed-meshheading:17664396-RNA, Messenger
pubmed:year
2007
pubmed:articleTitle
Pressure overload-induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation.
pubmed:affiliation
Department of Cardiology, Chunichi Hospital, Nagoya, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't