Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a dynamic GAA repeat expansion mutation within intron 1 of the FXN gene. Studies of mouse models for other trinucleotide repeat (TNR) disorders have revealed an important role of mismatch repair (MMR) proteins in TNR instability.
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model
- Details
- Category: Scientific News