case studies for Epigenetic's

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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


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