alexa Knockdown of the BBS10 Gene Product Affects Apical Targeting of AQP2 in Renal Cells: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Research Article

Knockdown of the BBS10 Gene Product Affects Apical Targeting of AQP2 in Renal Cells: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome

Miriam Zacchia1#, Gabriella Esposito2,3, Monica Carmosino4, Claudia Barbieri4, Enza Zacchia1,5, Alessia Anna Crispo2, Tiziana Fioretti2,3, Francesco Trepiccione1, Valentina Di Iorio6, Francesca Simonelli6, Francesco Salvatore2,7, Giovambattista Capasso1, Maria Svelto4,8 and Giuseppe Procino4,8*#

1Chair of Nephrology, Second University of Naples, Italy

2CEINGE-Biotecnologie Avanzate s.c. a r.l., Naples, Italy

3Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Italy

4Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Italy

5Institute of Genetics and Biophysics of the National Research Council (CNR), Naples, Italy

6Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences - Second University of Naples, Italy

7IRCCS SDN Foundation Naples, Italy

8Center of Excellence in Comparative Genomics, Bari, Italy

#Contributed equally

*Corresponding Author:
Giuseppe Procino
Department of Biosciences
Biotechnologies and Biopharmaceutics
University of Bari, Italy
Tel: +39-080-5443414
Fax: +39-080-5443388
E-mail: [email protected]

Received date: February 17, 2014; Accepted date:March 25, 2014; Published date: March 31, 2014

Citation: Zacchia M, Esposito G, Carmosino M, Barbieri C, Zacchia E, et al. (2014) Knockdown of the BBS10 Gene Product Affects Apical Targeting of AQP2 in Renal Cells: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome. J Genet Syndr Gene Ther 5:222. doi:10.4172/2157-7412.1000222

Copyright: © 2014 Zacchia M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Objective: Bardet-Biedl syndrome (BBS) is a rare genetic disorder whose clinical features include renal abnormalities, which ranges from renal malformations to renal failure. Polyuria and iso-hyposthenuria are common renal dysfunctions in BBS patients even in the presence of normal GFR. The mechanism underlying this defect is unknown and no genotype-phenotype correlation has yet been reported. Here we report four BBS patients showing different renal phenotypes: one had polyuria with hyposthenuria associated with mutation of BBS10, while three patients with normal urineconcentrating ability had mutations in BBS1. Methods: We measured aquaporin 2 (AQP2) urinary excretions in BBS patients and studied the possible role of BBS1 and BBS10 on AQP2 trafficking in a mouse cortical collecting duct cell line.

Results: We found that the BBS1-mutated patients showed a significant increase of water channel AQP2 urine excretion in antidiuresis. In contrast, the BBS10-mutated patient showed no difference in AQP2 excretion in antidiuresis and after an acute water load. In mouse kidney cortical collecting duct MCD4 cells, knockdown of BBS10, but not of BBS1, prevented the forskolin-dependent trafficking of AQP2 to the apical membrane, and induced the mis-trafficking to the basolateral membrane. Interestingly, BBS10 knockdown was associated with a dramatic reduction of tubulin acetylation without loss of cell polarity.

Conclusions: Therefore, the effect of BBS10 knockdown in vitro is consistent with the hyposthenuria observed in the patient with mutation of BBS10. This correlation between renal phenotype and genotype indicates that BBS10, but not BBS1, might control the trafficking of AQP2 and therefore plays a key role in the renal concentrating mechanism.


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