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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Pathological structure of the kidney from adult mice with mosaic mutation
M Lenartowicz1, M Kowal, D Buda-Lewandowska
1Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, Kraków, Poland.
Abstract:
The mosaic (Atp7a(mo-ms)) is an X-linked, lethal mutation in mice. In mosaic mutant males, many clinical features characteristic of defective copper metabolism have been observed and they die at the age of 15 days, exhibiting strong similarities to the brindled and macular mutants. About 4% of the mutant males live to sexual maturity and some of them are fertile. In this paper, alterations in the structure of the kidney from adult mutants are described. Owing to an inherited defect of efflux, copper is accumulated in the kidney of the mutants up to a toxic level and this leads to severe damage of the renal cortex. Pathological changes in the kidney mostly affected the structure of the renal corpuscle and renal tubules.
Insights
The mosaic mutation in mice causes defective copper metabolism, leading to kidney damage. Adult mosaic mutants show significant structural alterations in renal corpuscles and tubules due to toxic copper accumulation.
Area of Science:
- Genetics
- Toxicology
- Nephrology
Background:
- The mosaic (Atp7a(mo-ms)) mutation is an X-linked, lethal genetic defect in mice.
- Mosaic mutants exhibit clinical features of impaired copper metabolism, similar to brindled and macular mutants.
- While most mosaic mutant males die by 15 days, a small percentage reach sexual maturity.
Purpose of the Study:
- To investigate the structural kidney alterations in adult mosaic mutant mice.
- To understand the pathological consequences of copper accumulation in the kidney.
Main Methods:
- Histopathological examination of kidney tissues from adult mosaic mutant mice.
- Analysis of renal structural changes, focusing on the renal corpuscle and tubules.
Main Results:
- Adult mosaic mutants display significant kidney damage, particularly in the renal cortex.
- Copper accumulation to toxic levels was observed in the kidneys due to an inherited efflux defect.
- Pathological changes primarily affected the structure of the renal corpuscle and renal tubules.
Conclusions:
- The mosaic mutation leads to severe kidney damage in adult mice through toxic copper accumulation.
- Defective copper efflux is the underlying cause of renal pathology in these mutants.
- Kidney structural integrity is compromised, affecting renal corpuscles and tubules.
