<em>RRM2B</em>-Related Mitochondrial Disease

Gorman, GS; Pitceathly, RDS; Turnbull, DM; Taylor, RW

doi:10.1007/978-1-4614-3722-2_11

RRM2B-Related Mitochondrial Disease

Lookup NU author(s): Professor Grainne Gorman, Dr Robert Pitceathly, Emeritus Professor Doug Turnbull, Professor Robert Taylor

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Abstract

© 2013 Springer Science+Business Media, LLC. All rights reserved. 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.