Abstract
Mitochondrial protein synthesis requires the coordinated actions of mitochondrial DNA (mtDNA)-encoded transcripts, transfer RNAs (tRNAs), and ribosomal RNAs (rRNAs) in concert with an array of nuclear encoded proteins, including translation factors and ribosomal proteins. Defective mitochondrial translation causes multisystem disease with deficiencies of respiratory complexes that contain mtDNA-encoded subunits and is an emerging class of mitochondrial disease. Mutations in a subset of genes encoding mitochondrial translation factors and ribosomal proteins account for many of the mitochondrial disease cases with aberrant mitochondrial translation reported to date. With the rapid acceleration of disease gene identification in the age of next generation sequencing technologies, an understanding of most if not all the genes that can cause defective mitochondrial translation and disease in the next few years seems a reasonable possibility.
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Graham, B. (2013). Mitochondrial Protein Translation-Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors. In: Wong, LJ. (eds) Mitochondrial Disorders Caused by Nuclear Genes. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3722-2_17
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DOI: https://doi.org/10.1007/978-1-4614-3722-2_17
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