Cellular Models for Primary CoQ Deficiency Pathogenesis Study
Metadatos
Mostrar el registro completo del ítemEditorial
MDPI
Materia
Coenzyme Q Coenzyme Q deficiency Mitochondrial diseases Cell models Yeast iPSC Human fibroblasts
Fecha
2021-09-22Referencia bibliográfica
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]
Patrocinador
Junta de Andalucia P18-RT-4572 UPO-126247 UPO1265673 BIO-177; Instituto de Salud Carlos III European Commission FIS PI20/00541; FEDER Funding Pro-gram from the European Union Instituto de Salud Carlos III U729; Spanish Ministry of Science, Innovation and Universities RED2018-102576-TResumen
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.