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FARAFARA Cure FA

Alleviating GAA repeat induced transcriptional silencing of the Friedreich's ataxia gene during somatic cell reprogramming

Friedreich's ataxia is the most common autosomal recessive ataxia. This severe neurodegenerative disease is caused by an expansion of GAA repeats located in the first intron of the frataxin (FXN) gene, which represses its transcription. Although transcriptional silencing is associated with heterochromatin-like changes in the vicinity of the expanded GAAs, the exact mechanism and pathways involved in transcriptional inhibition are largely unknown. As major remodeling of the epigenome is associated with somatic cell reprogramming, modulating chromatin modification pathways during the cellular transition from a somatic to a pluripotent state is likely to generate permanent changes to the epigenetic landscape. We hypothesize that the epigenetic modifications in the vicinity of the GAA repeats can be reversed by pharmacological modulation during somatic cell reprogramming.

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About the Author

Jen Farmer

Jen Farmer

Executive Director

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