Cellular Models for Primary CoQ Deficiency Pathogenesis Study Santos Ocaña, Carlos Alcázar Fabra, María Coenzyme Q Coenzyme Q deficiency Mitochondrial diseases Cell models Yeast iPSC Human fibroblasts This work was supported by Junta de Andalucia grants P18-RT-4572, UPO-126247, UPO1265673 and BIO-177, the Instituto de Salud Carlos III FIS grant FIS PI20/00541, the FEDER Funding Pro-gram from the European Union, and CIBERER (U729)-ISCIII, and Spanish Ministry of Science, Innovation and Universities grant RED2018-102576-T. 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. 2021-11-03T12:57:02Z 2021-11-03T12:57:02Z 2021-09-22 info:eu-repo/semantics/article Santos-Ocaña, C... [et al.]. Cellular Models for Primary CoQ Deficiency Pathogenesis Study. Int. J. Mol. Sci. 2021, 22, 10211. [https://doi.org/10.3390/ijms221910211] http://hdl.handle.net/10481/71264 10.3390/ijms221910211 eng http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess Atribución 3.0 España MDPI