ERA CONGRESS 2023
New research on ADTKD-MUC1

 

5/29/2023 - New research on ADTKD will be presented at this year's European Renal Association (ERA) Congress. The congress will take place from June 15th to 18th. held in Milan.


Knaup, Karl X et al. Characterization and regulation of the pathogenic mucin 1 frameshift protein in patient derived cells affected by ADTKD-MUC1

The researchers from Erlangen examined the misfolded MUC1 protein in cells from diseased patients. They found that the MUC1 protein could be downregulated by two different therapeutic approaches - the substance BRD4780 and gene regulation (RNA interference).


ADTKD due to MUC1-1 gene mutation: a major diagnostic challenge, not identified by exome sequencing

Data from four families with ADTKD-MUC1 (17 patients) are presented. It was found that the disease had very different characteristics even within the same family. This was particularly true for the time of onset and the rate of progression. There were hardly any abnormalities in the urine, and proteinuria was only found in a few cases. It is currently unclear which factors are responsible for the different courses. MUC1 disease cannot be diagnosed using common gene sequencing methods (e.g. exome sequencing, Sanger sequencing).


Also of particular interest is the session Basics of Genetics for Nephrologists, including the following presentations:


  • Jan Halbritter (Charité Berlin): Actionable genes in kidney diseases: definition and practical examples
  • Peter Conlon (Rom, Italien): Genetics for the transplant nephrologist
  • John Sayer (Newcastle, UK): Genetic-based therapeutic approaches in kidney diseases: are we there yet?



To the scientific program of the congress

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