Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics
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....
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Wiley
2012-01-01
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| Series: | Biochemistry Research International |
| Online Access: | http://dx.doi.org/10.1155/2012/504906 |
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| author | Javier T. Granados-Riveron J. David Brook |
| author_facet | Javier T. Granados-Riveron J. David Brook |
| author_sort | Javier T. Granados-Riveron |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c278e6a466e544289b12ab80d575775c |
| institution | Kabale University |
| issn | 2090-2247 2090-2255 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Biochemistry Research International |
| spelling | doaj-art-c278e6a466e544289b12ab80d575775c2025-02-03T01:28:39ZengWileyBiochemistry Research International2090-22472090-22552012-01-01201210.1155/2012/504906504906Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from GeneticsJavier T. Granados-Riveron0J. David Brook1Institute of Genetics, Queen's Medical Centre, School of Biology, University of Nottingham, Nottingham NG7 2UH, UKInstitute of Genetics, Queen's Medical Centre, School of Biology, University of Nottingham, Nottingham NG7 2UH, UKCongenital 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.http://dx.doi.org/10.1155/2012/504906 |
| spellingShingle | Javier T. Granados-Riveron J. David Brook Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics Biochemistry Research International |
| title | Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics |
| title_full | Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics |
| title_fullStr | Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics |
| title_full_unstemmed | Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics |
| title_short | Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics |
| title_sort | formation contraction and mechanotransduction of myofribrils in cardiac development clues from genetics |
| url | http://dx.doi.org/10.1155/2012/504906 |
| work_keys_str_mv | AT javiertgranadosriveron formationcontractionandmechanotransductionofmyofribrilsincardiacdevelopmentcluesfromgenetics AT jdavidbrook formationcontractionandmechanotransductionofmyofribrilsincardiacdevelopmentcluesfromgenetics |