Structural analysis of obscurin gene in hypertrophic cardiomyopathy.

Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Research Abstract Details 

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Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Abstract Text:

Takuro Arimura,Yuji Matsumoto,Osamu Okazaki,Takeharu Hayashi,Megumi Takahashi,Natsuko Inagaki,Kunihiko Hinohara,Naoto Ashizawa,Keisuke Yano,Akinori Kimura,

Hypertrophic cardiomyopathy (HCM) is a cardiac disease characterized by left ventricular hypertrophy with diastolic dysfunction. Molecular genetic studies have revealed that HCM is caused by mutations in genes for sarcomere/Z-band components including titin/connectin and its associate proteins. However, disease-causing mutations can be found in about half of the patients, suggesting that other disease-causing genes remain to be identified. To explore a novel disease gene, we searched for obscurin gene (OBSCN) mutations in HCM patients, because obscurin interacts with titin/connectin. Two linked variants, Arg4344Gln and Ala4484Thr, were identified in a patient and functional analyses demonstrated that Arg4344Gln affected binding of obscurin to Z9-Z10 domains of titin/connectin, whereas Ala4484Thr did not. Myc-tagged obscurin showed that Arg4344Gln impaired obscurin localization to Z-band. These observations suggest that the obscurin abnormality may be involved in the pathogenesis of HCM.

Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Publishing Authors By Initials

T Arimura,Y Matsumoto,O Okazaki,T Hayashi,M Takahashi,N Inagaki,K Hinohara,N Ashizawa,K Yano,A Kimura,

For similar investigative techniques: genetic techniques: cloning, molecular: two-hybrid system techniques research abstracts see: investigative techniques: genetic techniques: cloning, molecular: two-hybrid system techniques research

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Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Biochemical and biophysical research communication

VOLUME: 362

Page Numbers: 281-7

Journal Abbreviation: Biochem. Biophys. Res. Commun.

ISSN: 0006-291X

DAY: 13

MONTH: 08

YEAR: 2007

Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Information

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LANGUAGE: eng

NlmUniqueID: 372516

Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Keywords Mesh Terms:

KEYWORDS: Two-Hybrid System Techniques

MESH TERMS: metabolism

Chemical & Substance for Abstract: Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Information

Substance Name: OBSCN protein, human

Registry Number: 0

Grant and Affiliation Information for Structural analysis of obscurin gene in hypertrophic cardiomyopathy.

AFFILIATION: Department of Molecular Pathogenesis, Medical Research Institute and Laboratory of Genome Diversity, School of Biomedical Science, Tokyo Medical and Dental University, 2-3-10 Kandasurugadai, Chiyoda-ku, Tokyo 101-0062, Japan.

Country: United States

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MEDLINETA: Biochem Biophys Res Commun

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