• gene
  • Our working hypothesis is that GGGGCC repeat expansions cause FTD and/or ALS, at least in part, through aberrant gene expression and alternative splicing changes that may result from the formation of these toxic RNA foci. (grantome.com)
  • repeat expansion
  • In 2011, we identified a GGGGCC hexanucleotide repeat expansion in the non-coding region of C9ORF72 as the long- sought cause of FTD and ALS linked to chromosome 9p, further demonstrating the clinical and molecular overlap between these diseases. (grantome.com)
  • Genetic studies now suggest that this repeat expansion is the most common cause of familial FTD and ALS, explaining 10-20% of FTD and 25-40% of ALS families worldwide. (grantome.com)
  • Interestingly, in line with studies in other non-coding repeat expansion disorders, we showed that the repeat expansion leads to the formation of nuclear RNA foci, suggesting a possible toxic RNA gain-of-function disease mechanism. (grantome.com)
  • Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. (wikipedia.org)
  • As shown in the figure, as the DMPK repeat is replicated, the hairpin loop that is formed leads to repeat expansion (a) or contractions (b). (wikipedia.org)