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Titolo:
THE INFLUENCE OF THE ANGIOTENSIN-I CONVERTING-ENZYME GENOTYPE IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY VARIES WITH THE DISEASE GENE MUTATION
Autore:
TESSON F; DUFOUR C; MOOLMAN JC; CARRIER L; ALMAHDAWI S; CHOJNOWSKA L; DUBOURG O; SOUBRIER F; BRINK P; KOMAJDA M; GUICHENEY P; SCHWARTZ K; FEINGOLD J;
Indirizzi:
HOP LA PITIE SALPETRIERE,INSERM,UR 153,PAVILLON RAMBUTEAU,47 BLVD HOPF-75651 PARIS 13 FRANCE UNIV STELLENBOSCH,SCH MED,DEPT BIOCHEM MED ZA-7505 TYGERBERG SOUTH AFRICA ST MARYS HOSP,SCH MED,DEPT BIOCHEM & MOL GENET LONDON W2 1PG ENGLAND INST CARDIOL WARSAW POLAND GRP HOSP PITIE SALPETRIERE,GRP MYCOCARDIOPATHIES SOC FRANCAISE CARDIOL F-75634 PARIS FRANCE GRP HOSP ST LOUIS PARIS FRANCE UNIV STELLENBOSCH,SCH MED,DEPT INTERNAL MED ZA-7505 TYGERBERG SOUTH AFRICA UNIV PARIS 06,INSERM,U155 PARIS FRANCE UNIV PARIS 07,INSERM,U155 PARIS FRANCE GRP HOSP PITIE SALPETRIERE,IFR PHYSIOPATHOL & GENET CARDIOVASC F-75634 PARIS FRANCE
Titolo Testata:
Journal of Molecular and Cellular Cardiology
fascicolo: 2, volume: 29, anno: 1997,
pagine: 831 - 838
SICI:
0022-2828(1997)29:2<831:TIOTAC>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEAVY-CHAIN GENE; INSERTION DELETION POLYMORPHISM; LEFT-VENTRICULAR HYPERTROPHY; CARDIAC TROPONIN-T; PROTEIN-C GENE; CLINICAL MANIFESTATIONS; MISSENSE MUTATION; ALPHA-TROPOMYOSIN; PATHO-PHYSIOLOGY; IDENTIFICATION;
Keywords:
HYPERTROPHIC CARDIOMYOPATHY; SARCOMERIC PROTEIN; MYOSIN HEAVY CHAIN; MYOSIN BINDING PROTEIN C; ANGIOTENSIN-I CONVERTING ENZYME; MUTATION; POLYMORPHISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
36
Recensione:
Indirizzi per estratti:
Citazione:
F. Tesson et al., "THE INFLUENCE OF THE ANGIOTENSIN-I CONVERTING-ENZYME GENOTYPE IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY VARIES WITH THE DISEASE GENE MUTATION", Journal of Molecular and Cellular Cardiology, 29(2), 1997, pp. 831-838

Abstract

Familial hypertrophic cardiomyopathy is an autosomal dominant genetically heterogeneous disease characterized by a partial penetrance and variable expressivity. Previous studies showed that the extent of hypertrophy is influenced by the angiotensin I converting enzyme insertion/deletion (I/D) polymorphism. Recently, molecular genetic analysis revealed the existence of healthy carriers and that as many as a quarter of genetically affected individuals do not express the disease. This data prompted us to re-investigate the role of the angiotensin I converting enzyme polymorphism on hypertrophy by assessing both clinically affected individuals and healthy carriers. For this, several families with mutations in the cardiac myosin binding protein C or the beta-myosin heavy chain genes were analysed. The mean maximal intraventricular septum thickness was compared as a function of angiotensin I convertingenzyme genotypes in all genetically affected individuals (n=114), andin subsets of subjects carrying either a splice acceptor site mutation in the cardiac myosin binding protein C gene (n=33), or various missense mutations in the cardiac beta-myosin heavy chain gene (n=81) or finally, mutations in the Arg403 codon of the beta-myosin heavy chain gene (n=54). Significant association between the D allele and hypertrophy was observed only in the case of Arg403 codon mutations (mean septum thickness for subjects with the DD genotype: 19.3 +/- 2.7 mm; with the ID genotype: 13.4 +/- 1.3 mm and with the II. genotype: 11.0 +/- 0.9 mm; P<0.02). These results were confirmed by the chi(2) test showingan over-representation of DD genotype in patients carrying an Arg403 codon mutation associated with septal hypertrophy (P<0.05). Our data confirms that the angiotensin I converting enzyme genotypes can influence the phenotypic expression of hypertrophy and shows that this influence depends on the mutation, raising the concept of multiple genetic modifiers in familial hypertrophic cardiomyopathy. (C) 1997 Academic Press Limited.

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Documento generato il 29/03/20 alle ore 17:15:24