Abstract
Disorders of mitochondrial DNA (mtDNA) maintenance are well-recognised causes of mitochondrial disease presentations in both adults and children. In this chapter, we review the expanding clinical spectrum associated with mutation of the nuclear-encoded RRM2B gene which encodes the small subunit of p53-inducible ribonucleotide reductase (p53R2). Both recessive and dominant RRM2B mutations have been reported which can lead to different, secondary mtDNA changes including quantitative loss of mtDNA copy number and clonally-expanded multiple mtDNA deletions in post-mitotic tissues.
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Abbreviations
- RRM2B :
-
Ribonucleoside-diphosphate reductase subunit M2 B
- POLG :
-
Polymerase (DNA directed), gamma
- POLG2 :
-
Polymerase (DNA directed), gamma 2, accessory subunit
- PEO1 :
-
Progressive external ophthalmoplegia 1 protein
- C10orf2 :
-
Chromosome 10 open reading frame 2
- TK2 :
-
Thymidine kinase 2
- DGUOK :
-
Deoxyguanosine kinase
- SUCLA2 :
-
Succinate-CoA ligase, ADP-forming, beta subunit
- SUCLG1 :
-
Succinyl-CoA ligase, GDP-forming, alpha subunit
- TYMP :
-
Thymidine phosphorylase
- SLC25A4 (ANT1):
-
Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 (Adenine Nucleotide Translocase 1)
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Acknowledgements
DMT and RWT are supported by a Wellcome Trust Strategic Award (906919) and the UK NHS Specialised Services “Rare Mitochondrial Disorders of Adults and Children” Diagnostic Service (http://www.mitochondrialncg.nhs.uk). GSG, DMT and RWT are also supported by the Medical Research Council (UK, G1000848) as part of the MRC Centre for Neuromuscular Diseases. RDSP is funded by MRC grant number G0800674.
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Gorman, G., Pitceathly, R., Turnbull, D., Taylor, R. (2013). RRM2B-Related Mitochondrial Disease. In: Wong, LJ. (eds) Mitochondrial Disorders Caused by Nuclear Genes. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3722-2_11
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DOI: https://doi.org/10.1007/978-1-4614-3722-2_11
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