Article
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
Human molecular genetics - 1 Mar 2008
Al-Mahdawi Sahar, Pinto Ricardo Mouro, Ismail Ozama, Varshney Dhaval, Lymperi Stefania, Sandi Chiranjeevi, Trabzuni Daniah, Pook Mark
Abstract excerpt
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein. Evidence suggests that the mutation may induce epigenetic changes and heterochromatin formation, thereby impeding gene transcription. In particular, studies using FRDA patient blood and lymphoblastoid cell lines have detected increased DNA methylation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.