Daehmlow, Steffen and Erdmann, Jeanette and Knueppel, Tanja and Gille, Christoph and Froemmel, Cornelius and Hummel, Manfred and Hetzer, Roland and Regitz-Zagrosek, Vera (2002) Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 298 (1). pp. 116-120. ISSN 0006-291X
Full text not available from this repository.Abstract
Mutations in sarcomeric protein genes have been reported to cause dilated cardiomyopathy (DCM). In order to detect novel mutations we screened the sarcomeric protein genes beta-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), troponin T (TNNT2), and alpha-tropomyosin (TPMI) in 46 young patients with DCM. Mutation screening was done using single-strand conformation polymorphism (SSCP) analysis and DNA sequencing. The mutations in MYH7 were projected onto the protein data bank-structure (pdb) of myosin of striated muscle. In MYH7 two mutations (Ala223Thr and Ser642Leu) were found in two patients. Ser642Leu is part of the actin-myosin interface. Ala223Thr affects a buried residue near the ATP binding site. In MYBPC3 we found one missense mutation (Asn948Thr) in a male patient. None of the mutations were found in 88 healthy controls and in 136 patients with hypertrophic cardiomyopathy (HCM). Thus mutations in HCM causing genes are not rare in DCM and have potential for functional relevance. (C) 2002 Elsevier Science (USA). All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HYPERTROPHIC CARDIOMYOPATHY; ALPHA-TROPOMYOSIN; MYOSIN; IDENTIFICATION; FREQUENCY; GENETICS; HEART; dilated cardiomyopathy; mutation; beta myosin heavy chain; myosin binding protein C |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin II |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 27 Aug 2021 05:46 |
| Last Modified: | 27 Aug 2021 05:46 |
| URI: | https://pred.uni-regensburg.de/id/eprint/39772 |
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