BGEN 3020 Lecture Notes - Lecture 24: Spinal Muscular Atrophy, Hexosaminidase, Ganglioside
26 Oct 2018
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Document Summary
Ttt-ttc: phe - phe, synonymous base pair change inactivates a splicing enhancer at the exon 6-7 junction. Difficult to prove that a variation is actually causing a disease (is a mutation) requires biochemical and other approaches (lab research: need to isolate the change in another system to prove it. Many possible protein effects amount of mrna and thus protein: example: cnvs vs nmd aggregation, example: sickle cell. Degradation: example: in the er trafficking to the wrong organelle, functional protein that is just in the wrong place function, protein-protein interactions, regulation, enzymatic activity ion channel function. Lysosomal enzyme that degrades many substrates at acidic ph. Heterozygotes have reduced enzyme levels but are clinically normal. Homozygotes have a build-up of gm2 ganglioside, progressive destruction of the nervous system. Ashkenazi jews: 4 base pair insertion (frameshift) most common. Louisiana cajuns: same insertion, connection is unknown. French canadians: 2 different mutations compound heterozygotes are observed.
