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01-05-2019 | Cystic Fibrosis | Editorial Commentary

A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?

Author: Julian Midgley

Published in: Pediatric Nephrology | Issue 5/2019

Excerpt

The report by Brasell et al. in this issue of Pediatric Nephrology [1] raises the possibility that individuals with cystinosis who have a nonsense mutation that is transcribed into a premature termination codon (PTC) can have functional cystinosin by taking a medication that allows translation of the complete CTNS gene. This is achieved by reducing translational fidelity which allows a change in one nucleotide of a PTC, turning it into a sense codon. This complete translation, rather than termination of translation due to the PTC, permits readthrough (RT) of the mutated allele. Treatment with an RT agent could not only correct the lysosomal accumulation of cysteine but also correct other defects due to cystinosis [2, 3]. PTC suppression therapy allowing translational RT has the potential to treat disease due to in-frame nonsense mutations. …

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Title: A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?
Author: Julian Midgley
Publication date: 01-05-2019
Publisher: Springer Berlin Heidelberg
Keywords: Cystic Fibrosis
Cystic Fibrosis
Published in: Pediatric Nephrology / Issue 5/2019
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-018-4173-2

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A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?

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Keynote webinar | Spotlight on medication adherence

Springer Medicine

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