Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patient Identification and Sample Collection
2.2. Genomic DNA Sequencing
2.3. Plasmid Construction and Immunofluorescence Confocal Microscopy
2.4. Homology Modeling of AVPR2 Structure
2.5. Molecular Dynamics (MD) Simulations
3. Results
3.1. Patient Characteristics
3.2. DNA Sequence Analysis
3.3. Both AVPR2 and AVPR2-∆V279 Can Localize to the Cell Plasma Membrane
3.4. Conformational Changes in the Distinct Types of AVPR2 during MD Simulations
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Test Duration (h) | Body Weight (g) | Body Weight Loss (%) | Serum Sodium (mmol/L) | Serum Osmolarity (mOsm/kg) | Urine Specific Gravity | Urine Sodium (mmol/L) | Urine Osmolarity (mOsm/kg) |
---|---|---|---|---|---|---|---|
0 | 6424 | 0 | 156 | 327 | 1.010 | 14 | 152 |
1 | 6321 | 1.6 | 156 | 322 | 1.007 | ND | 193 |
2 * | 6224 | 3.1 | 160 | 328 | 1.005 | 8 | 128 |
3 | 6294 | 2.0 | 155 | ND | 1.006 | 18 | 168 |
4 | 6156 | 4.2 | 160 | 330 | 1.008 | 21 | 210 |
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Chen, M.-C.; Hsiao, Y.-C.; Chang, C.-C.; Pan, S.-F.; Peng, C.-W.; Li, Y.-T.; Liu, C.-D.; Liou, J.-W.; Hsu, H.-J. Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis. Biomedicines 2021, 9, 301. https://doi.org/10.3390/biomedicines9030301
Chen M-C, Hsiao Y-C, Chang C-C, Pan S-F, Peng C-W, Li Y-T, Liu C-D, Liou J-W, Hsu H-J. Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis. Biomedicines. 2021; 9(3):301. https://doi.org/10.3390/biomedicines9030301
Chicago/Turabian StyleChen, Ming-Chun, Yu-Chao Hsiao, Chun-Chun Chang, Sheng-Feng Pan, Chih-Wen Peng, Ya-Tzu Li, Cheng-Der Liu, Je-Wen Liou, and Hao-Jen Hsu. 2021. "Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis" Biomedicines 9, no. 3: 301. https://doi.org/10.3390/biomedicines9030301