Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.Clin Biochem. 2009 May; 42(7-8):742-5.CB
Abstract
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.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Language
eng
PubMed ID
19094978
Citation
Montero, Raquel, et al. "Coenzyme Q10 Deficiency Associated With a Mitochondrial DNA Depletion Syndrome: a Case Report." Clinical Biochemistry, vol. 42, no. 7-8, 2009, pp. 742-5.
Montero R, Sánchez-Alcázar JA, Briones P, et al. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. Clin Biochem. 2009;42(7-8):742-5.
Montero, R., Sánchez-Alcázar, J. A., Briones, P., Navarro-Sastre, A., Gallardo, E., Bornstein, B., Herrero-Martín, D., Rivera, H., Martin, M. A., Marti, R., García-Cazorla, A., Montoya, J., Navas, P., & Artuch, R. (2009). Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. Clinical Biochemistry, 42(7-8), 742-5. https://doi.org/10.1016/j.clinbiochem.2008.10.027
Montero R, et al. Coenzyme Q10 Deficiency Associated With a Mitochondrial DNA Depletion Syndrome: a Case Report. Clin Biochem. 2009;42(7-8):742-5. PubMed PMID: 19094978.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
AU - Montero,Raquel,
AU - Sánchez-Alcázar,Jose A,
AU - Briones,Paz,
AU - Navarro-Sastre,Aleix,
AU - Gallardo,Ester,
AU - Bornstein,Belén,
AU - Herrero-Martín,Dolores,
AU - Rivera,Henry,
AU - Martin,Miguel A,
AU - Marti,Ramón,
AU - García-Cazorla,Angels,
AU - Montoya,Julio,
AU - Navas,Plácido,
AU - Artuch,Rafael,
Y1 - 2008/12/03/
PY - 2008/09/18/received
PY - 2008/10/28/revised
PY - 2008/10/29/accepted
PY - 2008/12/20/entrez
PY - 2008/12/20/pubmed
PY - 2009/6/13/medline
SP - 742
EP - 5
JF - Clinical biochemistry
JO - Clin Biochem
VL - 42
IS - 7-8
N2 - 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.
SN - 1873-2933
UR - https://www.unboundmedicine.com/medline/citation/19094978/Coenzyme_Q10_deficiency_associated_with_a_mitochondrial_DNA_depletion_syndrome:_a_case_report_
L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-9120(08)00588-2
DB - PRIME
DP - Unbound Medicine
ER -