Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing
Abstract
:1. Introduction
Adrenal Insufficiency Treatment Approaches
2. Congenital Adrenal Hyperplasia Models
2.1. Monolayer Cells
2.2. Three Dimensional Structures
2.3. Animal Models
3. Transcriptomics of the Adrenal Gland for Improvement Differentiation Strategies
4. Challenges in the Artificial Cellular Differentiation to the Adrenal Gland
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Authors | Object | Mutated Genes | Mutations | Treatment | DOI |
---|---|---|---|---|---|
Ruiz-Babot et al., 2018 [35] | Steroidogenic cells differentiated from human urine-derived stem cells (USCs) | CYP21A2 | c.515T > A, p.(Ile172Asn) | Lentiviruses | 10.1016/j.celrep.2018.01.003 |
c.955C > T, p.(Gln319Stop) | |||||
STAR | c.666delC, p.(Thr223Leufs × 98) | ||||
HSD3B | NA | ||||
CYP11A1 | c.940G > A, p.(Glu314Lys) | ||||
Naiki et al., 2022 [36] | Steroidogenic cells differentiated from human iPSc | CYP21A2 | p.I172N/p.I172N | AAV2 | 10.1089/hum.2022.005 |
p.R356W/IVS2–13A/C>G | AAV2 | ||||
N.A. | AAV2 | ||||
IVS2–13A/C > GR483delInt, CGG>CC | AAV2 | ||||
CYP17A1 | DF54/Y329KfsX418 | AAV2 | |||
CYP11B1 | p.W116X/p.W116X | AAV9 | |||
Markmann et al., 2017 [37] | mice C57Bl/10SnSlc-H-2aw18 | Cyp21a1 | Cyp21a1-Cyp21a2ps chimera | AAVrh10 | 10.1089/hum.2017.203 |
Naiki et al. et al., 2022 [36] | mice C57BL/6-DBA/2/Cyp11b1-/- | Cyp11b1 | The 4th exons disruped | AAV9 | 10.1089/hum.2022.005 |
Schubert et al., 2022 [38] | C57Bl/6NCrl-Cyp21a1tg(CYP21A2)Koe | Cyp21a2 | replacing the 2620-bp mCyp21a1with the 2713-bp hCYP21A2 | – | 10.1210/jendso/bvac062 |
Hasegawa et al., 2000 [39] | mice C57BL/6/ StAR-/- | StAR | disrupted the StAR gene by deleting part of exon 2 and all of exon 3 | – | 10.1073/pnas.94.21.11540 |
Hu et al., 2002 [40] | mice C57BL/6/Cyp11a1-/- | Cyp11a1 | neo gene was inserted within exon 1 | – | 10.1210/me.2002–0055 |
Yang et al., 1993 [41] | rabbit | deletion | – | 10.1210/endo.132.5.7682938 | |
Paul et al., 2022 [42] | Xenopus tropicalis | cyp21a2 | 11-base pair deletion | – | 10.1210/endocr/bqac182 |
Eachus et al., 2017 [43] | Zebrafish | cyp21a2 | c.del211–224, p.P70 fs26X | – | 10.1210/en.2017–00549 |
c.del212–224, p.P70fs13X | – |
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Glazova, O.; Bastrich, A.; Deviatkin, A.; Onyanov, N.; Kaziakhmedova, S.; Shevkova, L.; Sakr, N.; Petrova, D.; Vorontsova, M.V.; Volchkov, P. Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing. Int. J. Mol. Sci. 2023, 24, 5365. https://doi.org/10.3390/ijms24065365
Glazova O, Bastrich A, Deviatkin A, Onyanov N, Kaziakhmedova S, Shevkova L, Sakr N, Petrova D, Vorontsova MV, Volchkov P. Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing. International Journal of Molecular Sciences. 2023; 24(6):5365. https://doi.org/10.3390/ijms24065365
Chicago/Turabian StyleGlazova, Olga, Asya Bastrich, Andrei Deviatkin, Nikita Onyanov, Samira Kaziakhmedova, Liudmila Shevkova, Nawar Sakr, Daria Petrova, Maria V. Vorontsova, and Pavel Volchkov. 2023. "Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing" International Journal of Molecular Sciences 24, no. 6: 5365. https://doi.org/10.3390/ijms24065365