Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.

ABSTRACT: Readthrough of premature termination (stop) codons (PTC) is a new approach to treatment of genetic diseases. We recently reported that readthrough of PTC in cells from some xeroderma pigmentosum complementation group C (XP-C) patients could be achieved with the aminoglycosides geneticin or gentamicin. We found that the response depended on several factors including the PTC sequence, its location within the gene and the aminoglycoside used. Here, we extended these studies to investigate the effects of other aminoglycosides that are already on the market. We reasoned that topical treatment could deliver much higher concentrations of drug to the skin, the therapeutic target, and thus increase the therapeutic effect while reducing renal or ototoxicity in comparison with systemic treatment. Our

SUBMITTER: Kuschal C 

PROVIDER: S-EPMC6334769 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature