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Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Carlos Santos-Ocaña1, María V Cascajo1, María Alcázar-Fabra2,3
1Centro Andaluz de Biología del Desarrollo, and CIBERER, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CSIC-JA, Carretera de Utrera km1, 41013 Sevilla, Spain.
International Journal of Molecular Sciences
|October 13, 2021
Summary
Primary coenzyme Q10 (CoQ) deficiency involves mitochondrial disorders caused by impaired CoQ biosynthesis. This review highlights cell models like yeast, fibroblasts, and iPSCs for validating gene mutations and studying disease mechanisms.
Area of Science:
- Biochemistry
- Genetics
- Mitochondrial Biology
Background:
- Primary coenzyme Q10 (CoQ) deficiency is a group of mitochondrial diseases.
- Characterized by reduced CoQ levels due to impaired biosynthesis.
- Early-stage CoQ treatment shows therapeutic potential.
Purpose of the Study:
- To review functional validation methods for gene variations in CoQ deficiency.
- To explore the utility of various cell models in studying these diseases.
- To discuss advancements in understanding CoQ deficiency pathogenesis and treatment.
Main Methods:
- Review of scientific literature on CoQ deficiency and cell models.
- Discussion of yeast functional complementation assays.
- Analysis of patient-derived dermal fibroblasts.
- Evaluation of human-induced pluripotent stem cells (hiPSCs) and organoids.
Main Results:
- Next-generation sequencing (NGS) identifies numerous gene mutations.
- Functional validation is crucial for interpreting NGS findings.
- Yeast, fibroblasts, and hiPSCs offer distinct advantages for disease modeling.
- hiPSC-derived organoids provide complex models for pathogenesis and therapy studies.
Conclusions:
- Cell models are essential for validating gene variants in CoQ deficiency.
- Yeast, fibroblasts, and hiPSCs are valuable tools for research.
- hiPSC-derived organoids represent a promising avenue for future studies.
- Understanding disease mechanisms through these models can guide therapeutic strategies.
