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A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Journal article
Authors Gittan Kollberg
Niklas Darin
Karin Benan
Ali-Reza Moslemi
Sigurd Lindal
Mar Tulinius
Anders Oldfors
Elisabeth Holme
Published in Neuromuscular disorders : NMD
Volume 19
Issue 2
Pages 147-50
ISSN 0960-8966
Publication year 2009
Published at Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences
Pages 147-50
Language en
Links dx.doi.org/10.1016/j.nmd.2008.11.01...
Keywords Acidosis, DNA Mutational Analysis, Mitochondrial Diseases, Ribonucleotide Reductases
Subject categories Medical and Health Sciences

Abstract

This report describes two brothers, both deceased in infancy, with severe depletion of mitochondrial DNA (mtDNA) in muscle tissue. Both had feeding difficulties, failure to thrive, severe muscular hypotonia and lactic acidosis. One of the boys developed a renal proximal tubulopathy. A novel homozygous c.686 G-->T missense mutation in the RRM2B gene, encoding the p53-inducible ribonucleotide reductase subunit (p53R2), was identified. This is the third report on mutations in RRM2B associated with severe mtDNA depletion, which further highlights the importance of de novo synthesis of deoxyribonucleotides (dNTPs) for mtDNA maintenance.

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