Document Detail

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
MedLine Citation:
PMID:  19138848     Owner:  NLM     Status:  MEDLINE    
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.
Gittan Kollberg; Niklas Darin; Karin Benan; Ali-Reza Moslemi; Sigurd Lindal; Már Tulinius; Anders Oldfors; Elisabeth Holme
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-01-12
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  19     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-02-09     Completed Date:  2009-05-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  147-50     Citation Subset:  IM    
Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Stråket 16, SE-413 45 Göteborg, Sweden.
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MeSH Terms
Acidosis, Lactic / genetics,  metabolism,  physiopathology
Cell Cycle Proteins / genetics*
DNA Mutational Analysis
DNA, Mitochondrial / genetics*
Deoxyribonucleotides / biosynthesis
Fatal Outcome
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics*
Mitochondrial Diseases / genetics*,  metabolism,  physiopathology
Muscle Fibers, Skeletal / metabolism,  pathology
Muscle Hypotonia / genetics,  metabolism,  physiopathology
Muscle, Skeletal / metabolism,  pathology,  physiopathology
Muscular Diseases / genetics*,  metabolism,  physiopathology
Mutation, Missense / genetics*
Renal Insufficiency, Acute / genetics,  metabolism,  physiopathology
Ribonucleotide Reductases / genetics*
Sequence Homology, Amino Acid
Reg. No./Substance:
0/Cell Cycle Proteins; 0/DNA, Mitochondrial; 0/Deoxyribonucleotides; 0/Genetic Markers; EC 1.17.4.-/RRM2B protein, human; EC 1.17.4.-/Ribonucleotide Reductases

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