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Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics

Granados-Riveron, Javier T.; Brook, David

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Authors

Javier T. Granados-Riveron

DAVID BROOK david.brook@nottingham.ac.uk
Professor of Human Genetics



Abstract

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.

Citation

Granados-Riveron, J. T., & Brook, D. (2012). Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics. Biochemistry Research International, 2012(504906), https://doi.org/10.1155/2012/504906

Journal Article Type Article
Publication Date Apr 15, 2012
Deposit Date Mar 24, 2014
Publicly Available Date Mar 29, 2024
Journal Biochemistry Research International
Print ISSN 2090-2247
Electronic ISSN 2090-2247
Publisher Hindawi Publishing Corporation
Peer Reviewed Peer Reviewed
Volume 2012
Issue 504906
DOI https://doi.org/10.1155/2012/504906
Public URL https://nottingham-repository.worktribe.com/output/709938
Publisher URL http://www.hindawi.com/journals/bri/2012/504906/

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