PHAR 562 Lecture Notes - Lecture 27: Ubiquitin, Phagocytosis, Spliceosome
8 Sep 2017
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Document Summary
With gwas, we can map mutations according to how common they are and effect size. Typically find rare alleles causing mendelian disease, low-frequency variants with intermediate effect, and common variants indicated in common disease by gwas. Sod1 mutation has a high effect size, but is very rare. Sporadic als cases might have a genetic component likely increasing susceptibility. C9orf72: a larger proportion of als cases have a variant a c9orf72. In ftd, there are aggregations of hyperphosphorylated tau protein. Mice that overexpress sod1 will have a greater number of ubiquitin-positive inclusions, and these inclusions contain tdp-43. Genes implicated in als also implicated in ftd by gwas, and then people realised that nearly 50% of. Als patients also have functional losses in the frontal lobe: 15% of als cases have ftd, and vice-versa, 40% of ftd cases have motor dysfunction, the result is that this is a spectrum of disorders.
