case studies for Epigenetic's
- Created by: Emilyburkee
- Created on: 04-01-23 17:22
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- Case studys for epigenetics
- ALS
- Progressive disease that affects motor neurons
- CAUSE = overall decrease in acetylated histone levels within motor neurones by:
- ? Reduction in histone acetyl transferase (HAT) activity
- OR ? Increased HDAC activity
- Fragile X
- Fragile X caused by silencing of FRM1 gene. • CGG tri-nucleotide repeats in the 5’UTR FRM1 associated with disease onse
- • Expansion of number of repeats (>200) ?hypermethylation of promoter in an attempt to turn off expression.
- C turned into 5mC by DNMTs
- ? interaction with histone marks ? compacted chromatin structure ? harder for transcription factors to be recruited and enhance expression
- ALS
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