RT Journal Article
T1 Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
A1 Santos-Ocaña, Carlos
A1 Cascajo, María V
A1 Alcázar-Fabra, María
A1 Staiano, Carmine
A1 López-Lluch, Guillermo
A1 Brea-Calvo, Gloria
A1 Navas, Plácido
K1 cell models
K1 coenzyme Q
K1 coenzyme Q deficiency
K1 human fibroblasts
K1 iPSC
K1 mitochondrial diseases
K1 yeast
AB Primary coenzyme Q10 (CoQ) deficiency includes a heterogeneous group of mitochondrial diseases characterized by low mitochondrial levels of CoQ due to decreased endogenous biosynthesis rate. These diseases respond to CoQ treatment mainly at the early stages of the disease. The advances in the next generation sequencing (NGS) as whole-exome sequencing (WES) and whole-genome sequencing (WGS) have increased the discoveries of mutations in either gene already described to participate in CoQ biosynthesis or new genes also involved in this pathway. However, these technologies usually provide many mutations in genes whose pathogenic effect must be validated. To functionally validate the impact of gene variations in the disease's onset and progression, different cell models are commonly used. We review here the use of yeast strains for functional complementation of human genes, dermal skin fibroblasts from patients as an excellent tool to demonstrate the biochemical and genetic mechanisms of these diseases and the development of human-induced pluripotent stem cells (hiPSCs) and iPSC-derived organoids for the study of the pathogenesis and treatment approaches.
YR 2021
FD 2021-09-22
LK https://hdl.handle.net/10668/28406
UL https://hdl.handle.net/10668/28406
LA en
DS RISalud
RD Apr 12, 2025