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Updated: Aug 21, 2026
Assessment of Kidney Function in Mouse Models of Glomerular Disease
Published on: June 30, 2018
Characterization of the renal phenotype in a mouse model of Marfan syndrome
Andrea Hartner1, Timo Eifert, Christian S Haas
1Department of Pediatrics, University of Erlangen-Nürnberg, Loschgestrasse 15, 91054 Erlangen, Germany. andrea.hartner@rzmail.uni-erlangen.de
Abstract:
The microfibrillar protein fibrillin-1 is expressed abundantly in the vasculature and the glomerulus of the kidney. Mutations in the fibrillin-1 gene lead to Marfan syndrome. The most common complication of this disease is aortic dilatation due to elastic deficiencies of the vascular wall. Several case reports describe glomerular disease in patients with Marfan syndrome, and fibrillin-1 has been implicated in nephrogenesis. To study the role of fibrillin-1 in renal development and function, we characterized the renal phenotype of fibrillin-1-underexpressing mice. Kidney histology was evaluated by means of morphometry and stereology. Relative kidney weights, daily urine excretion, urinary albumin excretion, serum and urinary creatinine, as well as serum urea were not different than wild-type mice. Glomerular number and renal capillarization were normal. The size of the renal filtration surface was comparable in wild-type and fibrillin-1-underexpressing mice. There was no indication for glomerular, renal vascular, or tubulointerstitial injury. However, glomerular volume and mesangial area were reduced. No changes in glomerular cell numbers were detected, but the cellular volume of mesangial cells was significantly lower in glomeruli of fibrillin-1-underexpressing mice. Thus, despite the high abundance of fibrillin-1 in glomeruli of wild-type animals, underexpression of fibrillin-1 did not lead to functional deficiencies of the glomerulus. Alterations in renal histology were only subtle with a reduced glomerular volume and mesangial area likely due to a reduced mesangial cell volume.
Insights
Fibrillin-1, crucial for vasculature and kidneys, is linked to Marfan syndrome. Studies show fibrillin-1 underexpression in mice causes subtle kidney changes, like reduced glomerular volume, but no functional deficits.
Area of Science:
- Nephrology
- Genetics
- Vascular Biology
Background:
- Fibrillin-1 is abundant in vasculature and kidney glomeruli.
- Mutations in fibrillin-1 cause Marfan syndrome, often leading to aortic dilatation.
- Fibrillin-1's role in nephrogenesis and glomerular disease in Marfan syndrome patients is suggested.
Purpose of the Study:
- To investigate the role of fibrillin-1 in renal development and function.
- To characterize the renal phenotype of fibrillin-1-underexpressing mice.
Main Methods:
- Kidney histology was assessed using morphometry and stereology.
- Key renal function parameters (urine/serum markers) were measured.
- Glomerular and vascular structures were quantitatively analyzed.
Main Results:
- No significant differences in kidney weight, urine excretion, or serum/urine creatinine and urea were observed.
- Glomerular number, renal capillarization, and filtration surface area were comparable to wild-type mice.
- Subtle histological changes included reduced glomerular volume and mesangial area, attributed to decreased mesangial cell volume, without functional impairment.
Conclusions:
- Despite high fibrillin-1 abundance in glomeruli, its underexpression did not cause functional renal deficiencies.
- Renal histological alterations were minimal, primarily affecting glomerular and mesangial cell volume.
- Fibrillin-1's role in renal development may involve subtle structural contributions rather than essential function.
