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Nephrol Dial Transplant (2004) 19: 1029-1032
Nephrol Dial Transplant Vol. 19 No. 5 © ERA-EDTA 2004; all rights reserved

Editorial Comment

Rescue of protein mutants: why?

Peter Gross1 and Torsten Schöneberg2

1Nephrologie, Universitätsklinikum C.G. Carus, Dresden and 2Abteilung für Molekulare Biochemie, Medical Faculty, University of Leipzig, Germany

Correspondence and offprint requests to: Peter Gross, MD, Nephrologie, M.K. III, Universitätsklinikum C.G. Carus, Fetscherstrasse 74, D-01307 Dresden, Germany. Email: peter.gross@mailbox.tu-dresden.de

Keywords: chemical chaperones; congenital diseases; nephrogenic diabetes insipidus; protein synthesis; rescued mutations

The first 150 words of the full text of this article appear below.



   Introduction
 
Inherited renal disease can change the patient's life in many ways and, as a rule, medicine has very little to offer. Until recently, that is; however: ‘tempora mutantur’ (‘times are changing’).



   Mutations: do they really matter?
 
A 23-year-old male outpatient of ours has congenital nephrogenic diabetes insipidus (nDI). For such a young man, the ‘personal city map’ normally would be marked by shops for certain types of sportswear, ‘power-food’ stations, information-technology outlets and discos. Not so in nDI. Our patient's city map is highlighted by lots of toilets. Areas of reduced density (>25 min between two ‘pit stops’) are off-limits. Needless to say, our prescription of thiazides barely added a minute to his critical interval. Can you imagine the ordeal of going to the movies or of attending school under such circumstances?



   Why are they making all these new noises?
 
A recent landmark article by Morello et al. [1] from Montreal says that there is hope . . . [Full Text of this Article]



   At which site do mutations matter?
 


   What is quality control?
 


   How to outsmart quality control
 


   When will the new strategies help real patients?
 


   Conclusion
 

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