Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition

Conclusions
Diagnosing ADTKD-MUC1 by molecular genetics is possible, but it is technically demanding and labor intensive. However, immunohistochemistry on kidney biopsy specimens is feasible for nongenetic diagnosis of ADTKD-MUC1 and therefore, a valid method to select families for further diagnostics. Our data are compatible with the hypothesis that specific molecular effects of MUC1-fs underlie the pathogenesis of this disease.

Source: Journal of the American Society of Nephrology : JASN - August 31, 2018 Category: Urology & Nephrology Authors: Knaup, K. X., Hackenbeck, T., Popp, B., Stoeckert, J., Wenzel, A., Büttner-Herold, M., Pfister, F., Schueler, M., Seven, D., May, A. M., Halbritter, J., Gröne, H.-J., Reis, A., Beck, B. B., Amann, K., Ekici, A. B., Wiesener, M. S. Tags: Basic Research Source Type: research