Biology 3592A Lecture Notes - Lecture 3: Missense Mutation, Exosphere, Stop Codon
4 Oct 2017
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Gene therapy translational bypass: most genetic disease is caused by in-frame nonsense mutations. Introduce a premature termination codon (ptc) within the disease-causing gene. Forms non-functional/gain of function truncated proteins during translation: require a drug that suppresses the fidelity of ribosome during translation. Will overlook ptc to allow translation to continue. Replace it with a near cognate aminoacyl-trna (which shares 2/3 nucleotides of ptc; wobble) Error is still present in mrna but will form full-length functional protein. Hemophilia: stages: mild moderate severe. Mom carriers can be asymptomatic/symptomatic: depends which x chromosome is inactivated during x inactivation. Mutation in f8/f9 leads to inefficient production of factors hemophilia. Spacer aa near cognate trna can be substituted (not stochastic) Addition of gentamicin is a pulse so that it"ll only be administered for some time before it starts reading other stop codons (i. e. the normal stop codon) & replace those.
