oxadiazoles has been researched along with Aging--Premature* in 1 studies
1 other study(ies) available for oxadiazoles and Aging--Premature
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A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies.
Werner Syndrome (WS) is a rare inherited disease characterized by premature aging and increased propensity for cancer. Mutations in the WRN gene can be of several types, including nonsense mutations, leading to a truncated protein form. WRN is a RecQ family member with both helicase and exonuclease activities, and it participates in several cell metabolic pathways, including DNA replication, DNA repair, and telomere maintenance. Here, we reported a novel homozygous WS mutation (c.3767 C > G) in 2 Argentinian brothers, which resulted in a stop codon and a truncated protein (p.S1256X). We also observed increased WRN promoter methylation in the cells of patients and decreased messenger WRN RNA (WRN mRNA) expression. Finally, we showed that the read-through of nonsense mutation pharmacologic treatment with both aminoglycosides (AGs) and ataluren (PTC-124) in these cells restores full-length protein expression and WRN functionality. Topics: Aging, Premature; Aminoglycosides; Apoptosis; Cells, Cultured; Chromosomes, Human; Codon, Nonsense; DNA Damage; DNA Methylation; DNA Replication; Epigenesis, Genetic; Female; Humans; Male; Mutation; Oxadiazoles; Promoter Regions, Genetic; Protein Synthesis Inhibitors; Werner Syndrome | 2015 |