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Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging.
Biofactors. 2021 Jul; 47(4):551-569.B

Abstract

Coenzyme Q10 (CoQ10) deficiency is a rare disease characterized by a decreased accumulation of CoQ10 in cell membranes. Considering that CoQ10 synthesis and most of its functions are carried out in mitochondria, CoQ10 deficiency cases are usually considered a mitochondrial disease. A relevant feature of CoQ10 deficiency is that it is the only mitochondrial disease with a successful therapy available, the CoQ10 supplementation. Defects in components of the synthesis machinery caused by mutations in COQ genes generate the primary deficiency of CoQ10 . Mutations in genes that are not directly related to the synthesis machinery cause secondary deficiency. Cases of CoQ10 deficiency without genetic origin are also considered a secondary deficiency. Both types of deficiency can lead to similar clinical manifestations, but the knowledge about primary deficiency is deeper than secondary. However, secondary deficiency cases may be underestimated since many of their clinical manifestations are shared with other pathologies. This review shows the current state of secondary CoQ10 deficiency, which could be even more relevant than primary deficiency for clinical activity. The analysis covers the fundamental features of CoQ10 deficiency, which are necessary to understand the biological and clinical differences between primary and secondary CoQ10 deficiencies. Further, a more in-depth analysis of CoQ10 secondary deficiency was undertaken to consider its origins, introduce a new way of classification, and include aging as a form of secondary deficiency.

Authors+Show Affiliations

Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain. Laboratorio de Fisiopatología Celular y Bioenergética, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain. Laboratorio de Fisiopatología Celular y Bioenergética, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain. CIBERER, Instituto de Salud Carlos III, Madrid, Spain.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

33878238

Citation

Navas, Plácido, et al. "Secondary CoQ10 Deficiency, Bioenergetics Unbalance in Disease and Aging." BioFactors (Oxford, England), vol. 47, no. 4, 2021, pp. 551-569.
Navas P, Cascajo MV, Alcázar-Fabra M, et al. Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging. Biofactors. 2021;47(4):551-569.
Navas, P., Cascajo, M. V., Alcázar-Fabra, M., Hernández-Camacho, J. D., Sánchez-Cuesta, A., Rodríguez, A. B. C., Ballesteros-Simarro, M., Arroyo-Luque, A., Rodríguez-Aguilera, J. C., Fernández-Ayala, D. J. M., Brea-Calvo, G., López-Lluch, G., & Santos-Ocaña, C. (2021). Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging. BioFactors (Oxford, England), 47(4), 551-569. https://doi.org/10.1002/biof.1733
Navas P, et al. Secondary CoQ10 Deficiency, Bioenergetics Unbalance in Disease and Aging. Biofactors. 2021;47(4):551-569. PubMed PMID: 33878238.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging. AU - Navas,Plácido, AU - Cascajo,María V, AU - Alcázar-Fabra,María, AU - Hernández-Camacho,Juan D, AU - Sánchez-Cuesta,Ana, AU - Rodríguez,Ana Belén Cortés, AU - Ballesteros-Simarro,Manuel, AU - Arroyo-Luque,Antonio, AU - Rodríguez-Aguilera,Juan Carlos, AU - Fernández-Ayala,Daniel J M, AU - Brea-Calvo,Gloria, AU - López-Lluch,Guillermo, AU - Santos-Ocaña,Carlos, Y1 - 2021/04/20/ PY - 2021/01/18/received PY - 2021/03/24/accepted PY - 2021/4/21/pubmed PY - 2022/1/7/medline PY - 2021/4/20/entrez KW - CoQ10 deficiency KW - aging KW - coenzyme CoQ10 KW - mitochondrial dysfunction KW - rare diseases SP - 551 EP - 569 JF - BioFactors (Oxford, England) JO - Biofactors VL - 47 IS - 4 N2 - Coenzyme Q10 (CoQ10) deficiency is a rare disease characterized by a decreased accumulation of CoQ10 in cell membranes. Considering that CoQ10 synthesis and most of its functions are carried out in mitochondria, CoQ10 deficiency cases are usually considered a mitochondrial disease. A relevant feature of CoQ10 deficiency is that it is the only mitochondrial disease with a successful therapy available, the CoQ10 supplementation. Defects in components of the synthesis machinery caused by mutations in COQ genes generate the primary deficiency of CoQ10 . Mutations in genes that are not directly related to the synthesis machinery cause secondary deficiency. Cases of CoQ10 deficiency without genetic origin are also considered a secondary deficiency. Both types of deficiency can lead to similar clinical manifestations, but the knowledge about primary deficiency is deeper than secondary. However, secondary deficiency cases may be underestimated since many of their clinical manifestations are shared with other pathologies. This review shows the current state of secondary CoQ10 deficiency, which could be even more relevant than primary deficiency for clinical activity. The analysis covers the fundamental features of CoQ10 deficiency, which are necessary to understand the biological and clinical differences between primary and secondary CoQ10 deficiencies. Further, a more in-depth analysis of CoQ10 secondary deficiency was undertaken to consider its origins, introduce a new way of classification, and include aging as a form of secondary deficiency. SN - 1872-8081 UR - https://www.unboundmedicine.com/medline/citation/33878238/Secondary_CoQ10_deficiency_bioenergetics_unbalance_in_disease_and_aging_ L2 - https://doi.org/10.1002/biof.1733 DB - PRIME DP - Unbound Medicine ER -