The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes
Mitochondrial respiratory chain (RC) disorders are a group of genetically and clinically heterogeneous diseases. This is because protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis and maintenance of mitochond...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | International Journal of Cell Biology |
| Online Access: | http://dx.doi.org/10.1155/2014/787956 |
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| author | Daria Diodato Daniele Ghezzi Valeria Tiranti |
| author_facet | Daria Diodato Daniele Ghezzi Valeria Tiranti |
| author_sort | Daria Diodato |
| collection | DOAJ |
| description | Mitochondrial respiratory chain (RC) disorders are a group of genetically and clinically heterogeneous diseases. This is because protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis and maintenance of mitochondria, including mitochondrial DNA (mtDNA) replication, transcription, and translation, require nuclear-encoded genes. In the past decade, a growing number of syndromes associated with dysfunction of mtDNA translation have been reported. This paper reviews the current knowledge of mutations affecting mitochondrial aminoacyl tRNAs synthetases and their role in the pathogenic mechanisms underlying the different clinical presentations. |
| format | Article |
| id | doaj-art-7a952767be2b47d988b5c97b3e5657b5 |
| institution | Kabale University |
| issn | 1687-8876 1687-8884 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Cell Biology |
| spelling | doaj-art-7a952767be2b47d988b5c97b3e5657b52025-02-03T01:02:38ZengWileyInternational Journal of Cell Biology1687-88761687-88842014-01-01201410.1155/2014/787956787956The Mitochondrial Aminoacyl tRNA Synthetases: Genes and SyndromesDaria Diodato0Daniele Ghezzi1Valeria Tiranti2Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta”, Via Temolo 4, 20126 Milan, ItalyUnit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta”, Via Temolo 4, 20126 Milan, ItalyUnit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta”, Via Temolo 4, 20126 Milan, ItalyMitochondrial respiratory chain (RC) disorders are a group of genetically and clinically heterogeneous diseases. This is because protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis and maintenance of mitochondria, including mitochondrial DNA (mtDNA) replication, transcription, and translation, require nuclear-encoded genes. In the past decade, a growing number of syndromes associated with dysfunction of mtDNA translation have been reported. This paper reviews the current knowledge of mutations affecting mitochondrial aminoacyl tRNAs synthetases and their role in the pathogenic mechanisms underlying the different clinical presentations.http://dx.doi.org/10.1155/2014/787956 |
| spellingShingle | Daria Diodato Daniele Ghezzi Valeria Tiranti The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes International Journal of Cell Biology |
| title | The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes |
| title_full | The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes |
| title_fullStr | The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes |
| title_full_unstemmed | The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes |
| title_short | The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes |
| title_sort | mitochondrial aminoacyl trna synthetases genes and syndromes |
| url | http://dx.doi.org/10.1155/2014/787956 |
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