Disease-Associated Repeat Instability and Mismatch Repair

Monika H.M. Schmidt, Christopher E. Pearson, DNA Repair, Available online 12 December 2015, ISSN 1568-7864, doi: 10.1016/j.dnarep.2015.11.008.

The formation of other unusual DNA and R-loop structures is proposed to play a key role in MMR-mediated instability. A complex correlation is emerging between tissues showing varying amounts of repeat instability and MMR expression levels. Notably, naturally occurring polymorphic variants of DNA repair genes can have dramatic effects upon the levels of repeat instability, which may explain the variation in disease age-of-onset, progression and severity. An increasing grasp of these factors holds prognostic and therapeutic potential.