Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by GAA•TTC repeat expansion. Understanding the mechanisms by which repeat expansion occurs may reveal therapeutic targets that will enable us to slow FRDA progression and delay or even prevent FRDA onset. We have previously shown that the mismatch repair (MMR) complex MutSbeta, plays an important role in the expansion process. However, it is not known if expansion results from an aberrant side reaction mediated by MutSbeta, or from an otherwise normal MMR response.

Read More: Downstream MMR processing contributes to GAA·TTC repeat expansion