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Gene profiling of polycystic kidneys
Gisela Schieren1, Brigitta Rumberger, Marinella Klein
1Renal Division, Department of Internal Medicine, Ruhr-University Hospital Bochum at Marienhospital Herne, Freiburg, Germany.
Summary
Autosomal dominant polycystic kidney disease (ADPKD) involves epithelial-to-myofibroblast transition (EMT), a process where cells change characteristics. This transition is linked to the progressive decline in kidney function observed in ADPKD patients.
Area of Science:
- Nephrology
- Molecular Biology
- Genetics
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) pathogenesis remains unclear despite established genetic basis.
- Cyst formation in ADPKD involves renal tubular epithelial cell de-differentiation, proliferation, fluid secretion, and extracellular matrix changes.
- Increased apoptosis and proliferation rates contribute to cystogenesis in ADPKD.
Purpose of the Study:
- To identify genes characterizing pathological changes in autosomal dominant polycystic kidney disease (ADPKD).
- To compare gene expression profiles in ADPKD kidneys versus normal and rejected kidneys.
Main Methods:
- Utilized a 7k cDNA microarray to compare gene expression profiles of 12 ADPKD kidneys, 13 chronic transplant nephropathy kidneys, and 16 normal kidneys.
- Employed Reverse Transcription Polymerase Chain Reaction (RT-PCR) and immunohistochemical techniques to validate microarray findings.
Main Results:
- Gene expression profiles clearly distinguished between normal, ADPKD, and rejected kidneys.
- Identified 87 specifically regulated genes in ADPKD, with 26 smooth muscle-typical genes suggesting epithelial-to-myofibroblast transition (EMT).
- Immunohistology confirmed smooth muscle actin and caldesmon in ADPKD kidney interstitium, while keratin 19 and fibulin-1 were in cystic epithelia.
Conclusions:
- The end stage of autosomal dominant polycystic kidney disease (ADPKD) exhibits increased markers of epithelial-to-myofibroblast transition (EMT).
- EMT is suggested to contribute to the progressive renal function loss in ADPKD.
- This study highlights EMT as a key pathogenetic factor in ADPKD.