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Mitochondrial Disorders Caused by Nuclear Genes pp 287–297Cite as

Disorders of Mitochondrial RNA Modification

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Abstract

Naturally occurring RNA molecules contain a variety of chemically modified nucleosides derived from the four standard nucleosides: cytidine, adenosine, uridine, and guanosine. These modified nucleosides contribute to many cellular processes, including RNA processing, the stability of RNA structures, and the fidelity and efficiency of protein expression. Alterations in RNA modification underlay the translational defects in the mitochondrial disorders MELAS syndrome and MERRF syndrome. Till date, two enzymes directly involved in RNA modification, TRMU and PUS1, have been identified which when mutated reduce the content of modified nucleosides of different classes of RNAs leading to altered protein expression and RNA stability. The underlying processes and components of RNA modification are reviewed, along with descriptions of the clinical features associated with this unique class of disorders.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, S842, One Baylor Plaza, 77030, Houston, TX, USA

    William J. Craigen

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  1. William J. Craigen
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Correspondence to William J. Craigen .

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  1. , Dept. of Molecular and Human Genetics, Baylor College of Medicine, Baylor Plaza ONE, Houston, 77030, Texas, USA

    Lee-Jun C. Wong

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Craigen, W. (2013). Disorders of Mitochondrial RNA Modification. In: Wong, LJ. (eds) Mitochondrial Disorders Caused by Nuclear Genes. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3722-2_18

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