title: The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
abstract: 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.
authors.affiliation: Unit 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, Italy.
authors.forename: Daria
authors.identifier: 0000-0003-3607-8523
authors.initials: D
authors.lastname: Diodato
authors.affiliation: Unit 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, Italy.
authors.forename: Daniele
authors.identifier: 0000-0002-6564-3766
authors.initials: D
authors.lastname: Ghezzi
authors.affiliation: Unit 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, Italy.
authors.forename: Valeria
authors.identifier: 0000-0002-3584-7338
authors.initials: V
authors.lastname: Tiranti