Journal
JOURNAL OF NEUROCHEMISTRY
Volume 126, Issue -, Pages 21-42Publisher
WILEY
DOI: 10.1111/jnc.12254
Keywords
epigenetics; Frataxin; Friedreich's ataxia; FXN; GAA; heterochromatin
Categories
Funding
- Imperial College
- Ataxia UK
- EFACTS (FP7)
- MRC UK
- Medical Research Council [MC_U120081321, G116/182, MC_EX_G0801765] Funding Source: researchfish
- Ataxia UK [7003] Funding Source: researchfish
- MRC [G116/182, MC_EX_G0801765, MC_U120081321] Funding Source: UKRI
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This is an exciting time in the study of Friedreich's ataxia. Over the last 10years much progress has been made in uncovering the mechanisms, whereby the Frataxin gene is silenced by (GAA)n repeat expansions and several of the findings are now ripe for testing in the clinic. The discovery that the Frataxin gene is heterochromatinised and that this can be antagonised in vivo has led to the tantalizing possibility that the disease might be amenable to a more radical therapeutic approach involving epigenetic modifiers. Here, we set out to review progress in the understanding of the fundamental mechanisms whereby genes are regulated at this level and how these findings have been applied to achieve a deeper understanding of the dysregulation that occurs as the primary genetic lesion in Friedreich's ataxia.
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