RT Journal Article
T1 Animal Models of Coenzyme Q Deficiency: Mechanistic and Translational Learnings.
A1 González-García, Pilar
A1 Barriocanal-Casado, Eliana
A1 Díaz-Casado, María Elena
A1 López-Herrador, Sergio
A1 Hidalgo-Gutiérrez, Agustín
A1 López, Luis C
K1 bioenergetics
K1 mitochondria
K1 mitochondrial disease
K1 oxidative stress
K1 pathomechanisms
K1 preclinical models
K1 sulfide metabolism
K1 therapy
AB Coenzyme Q (CoQ) is a vital lipophilic molecule that is endogenously synthesized in the mitochondria of each cell. The CoQ biosynthetic pathway is complex and not completely characterized, and it involves at least thirteen catalytic and regulatory proteins. Once it is synthesized, CoQ exerts a wide variety of mitochondrial and extramitochondrial functions thank to its redox capacity and its lipophilicity. Thus, low levels of CoQ cause diseases with heterogeneous clinical symptoms, which are not always understood. The decreased levels of CoQ may be primary caused by defects in the CoQ biosynthetic pathway or secondarily associated with other diseases. In both cases, the pathomechanisms are related to the CoQ functions, although further experimental evidence is required to establish this association. The conventional treatment for CoQ deficiencies is the high doses of oral CoQ10 supplementation, but this therapy is not effective for some specific clinical presentations, especially in those involving the nervous system. To better understand the CoQ biosynthetic pathway, the biological functions linked to CoQ and the pathomechanisms of CoQ deficiencies, and to improve the therapeutic outcomes of this syndrome, a variety of animal models have been generated and characterized in the last decade. In this review, we show all the animal models available, remarking on the most important outcomes that each model has provided. Finally, we also comment some gaps and future research directions related to CoQ metabolism and how the current and novel animal models may help in the development of future research studies.
SN 2076-3921
YR 2021
FD 2021-10-26
LK https://hdl.handle.net/10668/26975
UL https://hdl.handle.net/10668/26975
LA en
DS RISalud
RD Apr 17, 2025