Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures
Abstract
:1. Introduction
2. Results and Discussion
2.1. Location, Conservation and Pathogenicity Predictions of Four CYP1A1 Variants
2.2. Enzyme Activity Assays of Four CYP1A1 Variants
2.3. Effect of BP Treatment on Wild-Type CYP1A1 Enzyme Activity
2.4. Effect of BP Treatment on Enzyme Activity of Four CYP1A1 Variants
2.5. AFF as an Oligogenic Phenotype; a Role for CYP1A1 Variants in Combination with BPs
3. Materials and Methods
3.1. In Silico Prediction of Protein Structure and Pathogenicity
3.2. Site-Directed Mutagenesis
3.3. Cell Culture and Transfection
3.4. RT-qPCR
3.5. Bisphosphonate Treatment and Enzymatic and Viability Assays
3.6. Statistical Analysis
4. Conclusions
Supplementary Materials
Author Contributions
Funding
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Ugartondo, N.; Martínez-Gil, N.; Esteve, M.; Garcia-Giralt, N.; Roca-Ayats, N.; Ovejero, D.; Nogués, X.; Díez-Pérez, A.; Rabionet, R.; Grinberg, D.; et al. Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures. Int. J. Mol. Sci. 2021, 22, 7395. https://doi.org/10.3390/ijms22147395
Ugartondo N, Martínez-Gil N, Esteve M, Garcia-Giralt N, Roca-Ayats N, Ovejero D, Nogués X, Díez-Pérez A, Rabionet R, Grinberg D, et al. Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures. International Journal of Molecular Sciences. 2021; 22(14):7395. https://doi.org/10.3390/ijms22147395
Chicago/Turabian StyleUgartondo, Nerea, Núria Martínez-Gil, Mònica Esteve, Natàlia Garcia-Giralt, Neus Roca-Ayats, Diana Ovejero, Xavier Nogués, Adolfo Díez-Pérez, Raquel Rabionet, Daniel Grinberg, and et al. 2021. "Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures" International Journal of Molecular Sciences 22, no. 14: 7395. https://doi.org/10.3390/ijms22147395