Tags

Type your tag names separated by a space and hit enter

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.

Authors+Show Affiliations

Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -