Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs
Muscle disease: understanding different forms of a key muscle protein Contraction and relaxation of both heart and skeletal muscles are regulated by different forms of a protein called MyBP-C, mutations in this protein being important causes of heart and skeletal muscle diseases. Although the cardia...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2023-03-01
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| Series: | Experimental and Molecular Medicine |
| Online Access: | https://doi.org/10.1038/s12276-023-00953-x |
| _version_ | 1797850182763675648 |
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| author | Taejeong Song Maicon Landim-Vieira Mustafa Ozdemir Caroline Gott Onur Kanisicak Jose Renato Pinto Sakthivel Sadayappan |
| author_facet | Taejeong Song Maicon Landim-Vieira Mustafa Ozdemir Caroline Gott Onur Kanisicak Jose Renato Pinto Sakthivel Sadayappan |
| author_sort | Taejeong Song |
| collection | DOAJ |
| description | Muscle disease: understanding different forms of a key muscle protein Contraction and relaxation of both heart and skeletal muscles are regulated by different forms of a protein called MyBP-C, mutations in this protein being important causes of heart and skeletal muscle diseases. Although the cardiac form has been well studied, the two skeletal forms are not well understood. Taejeong Song and Sakthivel Sadayappan at the University of Cincinnati, USA, have reviewed current understanding of the structure and function of MyBP-C proteins, and links between mutations and disease. They report that mutations in the cardiac form are the most common cause of hypertrophic cardiomyopathy, disease of the heart muscle. Mutations in skeletal MyBP-C are associated with muscle diseases such as distal arthrogryposes, contracture hands and feet that stiffens joints and reduces mobility. Further study of MyBP-C function may help in developing gene therapies. |
| first_indexed | 2024-04-09T18:57:23Z |
| format | Article |
| id | doaj.art-ae49ecf09d0548ee978281c8c2b8759f |
| institution | Directory Open Access Journal |
| issn | 2092-6413 |
| language | English |
| last_indexed | 2024-04-09T18:57:23Z |
| publishDate | 2023-03-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Experimental and Molecular Medicine |
| spelling | doaj.art-ae49ecf09d0548ee978281c8c2b8759f2023-04-09T11:09:11ZengNature Publishing GroupExperimental and Molecular Medicine2092-64132023-03-0155350250910.1038/s12276-023-00953-xEtiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogsTaejeong Song0Maicon Landim-Vieira1Mustafa Ozdemir2Caroline Gott3Onur Kanisicak4Jose Renato Pinto5Sakthivel Sadayappan6Division of Cardiovascular Health and Disease, Department of Internal Medicine, University of CincinnatiDepartment of Biomedical Sciences, Florida State University College of MedicineDivision of Cardiovascular Health and Disease, Department of Internal Medicine, University of CincinnatiDivision of Cardiovascular Health and Disease, Department of Internal Medicine, University of CincinnatiDepartment of Pathology and Laboratory Medicine, College of Medicine, University of CincinnatiDepartment of Biomedical Sciences, Florida State University College of MedicineDivision of Cardiovascular Health and Disease, Department of Internal Medicine, University of CincinnatiMuscle disease: understanding different forms of a key muscle protein Contraction and relaxation of both heart and skeletal muscles are regulated by different forms of a protein called MyBP-C, mutations in this protein being important causes of heart and skeletal muscle diseases. Although the cardiac form has been well studied, the two skeletal forms are not well understood. Taejeong Song and Sakthivel Sadayappan at the University of Cincinnati, USA, have reviewed current understanding of the structure and function of MyBP-C proteins, and links between mutations and disease. They report that mutations in the cardiac form are the most common cause of hypertrophic cardiomyopathy, disease of the heart muscle. Mutations in skeletal MyBP-C are associated with muscle diseases such as distal arthrogryposes, contracture hands and feet that stiffens joints and reduces mobility. Further study of MyBP-C function may help in developing gene therapies.https://doi.org/10.1038/s12276-023-00953-x |
| spellingShingle | Taejeong Song Maicon Landim-Vieira Mustafa Ozdemir Caroline Gott Onur Kanisicak Jose Renato Pinto Sakthivel Sadayappan Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs Experimental and Molecular Medicine |
| title | Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs |
| title_full | Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs |
| title_fullStr | Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs |
| title_full_unstemmed | Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs |
| title_short | Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs |
| title_sort | etiology of genetic muscle disorders induced by mutations in fast and slow skeletal mybp c paralogs |
| url | https://doi.org/10.1038/s12276-023-00953-x |
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