Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy

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• 作者：Matthew Klos^a ; ¹ ; Lakshmi Mundada^b ; ¹ ; Indroneal Banerjee^c ; Sherry Morgenstern^a ; Stephanie Myers^c ; Michael Leone^c ; Mark Kleid^c ; Todd Herron^b ; Eric Devaney^a ; ^{Eric.Devaney@uhhospitals.org}
• 关键词：Alpha myosin heavy chain (αMHC) ; Beta myosin heavy chain (βMHC) ; Hypertrophic cardiomyopathy (HCM) ; Dilated cardiomyopathy (DCM) ; Isoproterenol (Iso)
• 刊名：Archives of Biochemistry and Biophysics
• 出版年：2017
• 出版时间：1 February 2017
• 年：2017
• 卷：615
• 期：Complete
• 页码：53-60
• 全文大小：1581 K
• 卷排序：615

文摘

Both the A1004S and P830L αMHC produce functional proteins that incorporate robustly into the sarcomere. The primary effect of the A1004S mutation is a calcium-independent reduction in contraction. The P830L mutation had no acute observable phenotype.