Document Detail


Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
MedLine Citation:
PMID:  19094978     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: To report on a case with a mitochondrial DNA (mtDNA) depletion syndrome. DESIGN AND METHODS: Laboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q(10) (CoQ(10)) status and quantify mitochondrial DNA. RESULTS: Decreased CoQ(10) values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance. CONCLUSIONS: mtDNA depletion syndrome was associated with CoQ(10) deficiency in our patient.
Authors:
Raquel Montero; Jose A Sánchez-Alcázar; Paz Briones; Aleix Navarro-Sastre; Ester Gallardo; Belén Bornstein; Dolores Herrero-Martín; Henry Rivera; Miguel A Martin; Ramón Marti; Angels García-Cazorla; Julio Montoya; Plácido Navas; Rafael Artuch
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-12-03
Journal Detail:
Title:  Clinical biochemistry     Volume:  42     ISSN:  1873-2933     ISO Abbreviation:  Clin. Biochem.     Publication Date:  2009 May 
Date Detail:
Created Date:  2009-04-13     Completed Date:  2009-06-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0133660     Medline TA:  Clin Biochem     Country:  United States    
Other Details:
Languages:  eng     Pagination:  742-5     Citation Subset:  IM    
Affiliation:
Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
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MeSH Terms
Descriptor/Qualifier:
DNA, Mitochondrial / genetics*
Female
Humans
Infant, Newborn
Mitochondria, Muscle / genetics
Mitochondrial Diseases / etiology*,  genetics*,  metabolism
Muscle, Skeletal / enzymology,  pathology
Ubiquinone / analogs & derivatives*,  deficiency
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial; 1339-63-5/Ubiquinone; 303-98-0/coenzyme Q10

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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