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Pathogenesis of Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) (C04)

Subject Area Nephrology
Term from 2019 to 2022
Project identifier Deutsche Forschungsgemeinschaft (DFG) - Project number 387509280
 
The most frequent form of ADTKD is caused by a specific frameshift mutation of the mucin 1 gene. Since the molecular consequences of this mutation leading to disease are unknown, our project intends to identify binding partners and study cellular effects of the frameshift mucin 1 protein in immortalized and primary tubular cells of affected patients. Kidney biopsies from ADTKD patients with different disease subforms will be studied by immunodetection and electron microscopy, in order to identify similarities but also differences. Finally, we will generate a mouse model that will induce an unfolded protein response (UPR) in the distal tubules, which may be a unifying feature of all subforms of ADTKD. This mouse model will be valuable to analyze pathomechanisms and investigate effects of drugs to inhibit UPR.
DFG Programme Collaborative Research Centres
Applicant Institution Universität Regensburg
 
 

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