A novel transgenic mouse model highlights molecular disruptions involved in the pathogenesis of Dent disease 1

Bouchra Sakhi, Imene; De Combiens, Elise; Frachon, Nadia; Durussel, Fanny; Brideau, Gaelle; Nemazanyy, Ivan; Frère, Perrine; Thévenod, Frank; Lee, Wing-Kee; Zeng, Qinghe; Klein, Christophe; Lourdel, Stéphane; Bignon, Yohan

doi:10.1016/j.gene.2024.148766

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Bouchra Sakhi, I., De Combiens, E., Frachon, N., Durussel, F., Brideau, G., Nemazanyy, I., Frère, P., Thévenod, F., Lee, W.-K., Zeng, Q., Klein, C., Lourdel, S., & Bignon, Y. (2024). A novel transgenic mouse model highlights molecular disruptions involved in the pathogenesis of Dent disease 1. Gene, 928, 148766. https://doi.org/10.1016/j.gene.2024.148766

Abstract

Dent disease (DD) is a hereditary renal disorder characterized by low molecular weight (LMW) proteinuria and progressive renal failure. Inactivating mutations of the CLCN5 gene encoding the 2Cl$^{-}$/H$^{+}$exchanger ClC-5 have been identified in patients with DD type 1. ClC-5 is essentially expressed in proximal tubules (PT) where it is thought to play a role in maintaining an efficient endocytosis of LMW proteins. However, the exact pathological roles of ClC-5 in progressive dysfunctions observed in DD type 1 are still unclear. To a