دورية أكاديمية
Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus
| العنوان: | Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus |
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| المؤلفون: | Pierre Bissonnette, Yoann Lussier, Jessica Matar, Alexandre Leduc‐Nadeau, Sandra Da Cal, Marie‐Françoise Arthus, Robert J. Unwin, Julia Steinke, Dharshan Rangaswamy, Daniel G. Bichet |
| المصدر: | Physiological Reports, Vol 9, Iss 11, Pp n/a-n/a (2021) |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Physiology |
| مصطلحات موضوعية: | aquaporin‐2, functional recovery, nephrogenic diabetes insipidus, recessive mutations, Physiology, QP1-981 |
| الوصف: | Abstract Aquaporin‐2 (AQP2) is a homotetrameric water channel responsible for the final water reuptake in the kidney. Disease‐causing AQP2 mutations induce nephrogenic diabetes insipidus (NDI), a condition that challenges the bodily water balance by producing large urinary volumes. In this study, we characterize three new AQP2 mutations identified in our lab from NDI patients (A120D, A130V, T179N) along the previously reported A47V variant. Using Xenopus oocytes, we compared the key functional and biochemical features of these mutations against classical recessive (R187C) and dominant (R254Q) forms, and once again found clear functional recovery features (increased protein stability and function) for all mutations under study. This behaviour, attributed to heteromerization to wt‐AQP2, challenge the classical model to NDI which often depicts recessive mutations as ill‐structured proteins unable to oligomerize. Consequently, we propose a revised model to the cell pathophysiology of AQP2‐related NDI which accounts for the functional recovery of recessive AQP2 mutations. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2051-817X 01962124 |
| Relation: | https://doaj.org/toc/2051-817X |
| DOI: | 10.14814/phy2.14866 |
| URL الوصول: | https://doaj.org/article/aa0c019621244c8c983c7ae83b1bb46e |
| رقم الأكسشن: | edsdoj.0c019621244c8c983c7ae83b1bb46e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 2051817X 01962124 |
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| DOI: | 10.14814/phy2.14866 |