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Generation and phenotypic characterization of Pde1a mutant mice
Xiaofang Wang1, Satsuki Yamada2, Wells B LaRiviere1
1Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, United States of America.
Plos One
|July 28, 2017
Summary
Phosphodiesterase 1A (PDE1A) deficiency in mice causes mild polycystic kidney disease and urine concentrating defects. PDE1A plays a role in autosomal dominant polycystic kidney disease (ADPKD) and blood pressure regulation.
Area of Science:
- Nephrology
- Molecular Biology
- Cardiovascular Physiology
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) pathogenesis may involve altered intracellular calcium, cAMP levels, and phosphodiesterase 1 (PDE1) activity.
- Zebrafish studies suggest PDE1A modulates cystic phenotypes, but its role in mammalian ADPKD is unclear.
Purpose of the Study:
- To investigate the role of phosphodiesterase 1A (PDE1A) in mammalian ADPKD and blood pressure regulation.
- To generate and characterize Pde1a null mouse models.
Main Methods:
- Utilized TALEN technology to create two Pde1a null mouse lines by targeting exon 7.
- Phenotyped Pde1a mutants on wild-type and Pkd2WS25/- backgrounds, assessing renal function, cystic disease, and cardiovascular parameters.
Main Results:
- Pde1a null mice exhibited mild renal cystic disease and urine concentrating defects, linked to PDE4 upregulation and reduced aquaporin-2 phosphorylation.
- Renal cystic disease was aggravated in Pde1a mutants on a Pkd2WS25/- background.
- Pde1a mutants displayed lower aortic blood pressure and increased left ventricular ejection fraction.
Conclusions:
- PDE1A is implicated in the renal pathogenesis of ADPKD.
- PDE1A plays a role in regulating blood pressure and cardiac function.
