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.
Highlights
Mitochondria are double-membrane cytoplasmic organelles essential for energy supply to the cell
The term mitochondrial disorder refers to diseases that are caused by oxidative phosphorylation (OXPHOS) dysfunction and comprises a clinically and genetically heterogeneous group of syndromes that all together are amongst the most common inherited human diseases, with a prevalence of 1 : 5000
On the contrary, combined OXPHOS defects are often associated with impairment of processes such as replication, transcription, or translation of mitochondrial DNA (mtDNA), which can be due to mutations in either mtDNA-encoded RNAs or nuclear DNA-encoded proteins [1, 2]
Summary
Mitochondria are double-membrane cytoplasmic organelles essential for energy supply to the cell. Adenosine-5triphosphate (ATP), the molecular unit of currency for intracellular energy transfer, is produced by the last of five multisubunit complexes embedded in the inner mitochondrial membrane, which form the respiratory chain (RC) responsible for oxidative phosphorylation (OXPHOS). Mitochondria have their own DNA (mtDNA) that is a circular, double-stranded molecule; in humans, it is 16.569 base pairs long and contains genes encoding 13 protein subunits of RC complexes I, III, IV, and V as well as transfer (t) and ribosomal (r) RNA encoding genes for mtDNA-specific translation. International Journal of Cell Biology for an increasing number of OXPHOS deficiencies and diseases (Table 1)
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