Readthrough of SCN5A Nonsense Mutations R1623X and S1812X Question Gene-therapy in Brugada Syndrome.

CONCLUSIONS: These results demonstrated that readthrough-enhancing methods effectively suppressed nonsense mutations in SCN5A and restored the expression of full-length channels. But the restored channels may increase the risk of arrhythmia. The strategies for nonsense mutations suppression provides potential evidence for personalized medicine for the treatment of genetic disorders. PMID: 28552050 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/28552050?dopt=Abstract

Source: Current Gene Therapy - May 28, 2017 Category: Genetics & Stem Cells Authors: Teng S, Huang J, Gao Z, Hao J, Yang Y, Zhang S, Pu J, Hui R, Wu Y, Fan Z Tags: Curr Gene Ther Source Type: research

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