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Biochemistry Research International
Volume 2012, Article ID 504906, 6 pages
Review Article

Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics

Institute of Genetics, Queen's Medical Centre, School of Biology, University of Nottingham, Nottingham NG7 2UH, UK

Received 20 January 2012; Revised 11 April 2012; Accepted 15 April 2012

Academic Editor: John Konhilas

Copyright © 2012 Javier T. Granados-Riveron and J. David Brook. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Congenital heart disease (CHD) is the most common birth defect in humans. It is a leading infant mortality factor worldwide, caused by defective cardiac development. Mutations in transcription factors, signalling and structural molecules have been shown to contribute to the genetic component of CHD. Recently, mutations in genes encoding myofibrillar proteins expressed in the embryonic heart have also emerged as an important genetic causative factor of the disease, which implies that the contraction of the early heart primordium contributes to its morphogenesis. This notion is supported by increasing evidence suggesting that not only contraction but also formation, mechanosensing, and mechanotransduction of the cardiac myofibrillar proteins influence heart development. In this paper, we summarize the genetic clues supporting this idea.