Thanks for reading my post that will probably not be a help to anybody but me. I am designing a mid level undergraduate course that uses human disease to teach genetics and technological advances in researching these diseases. For example sickle cell anemia for protein sequencing and adaptative tradeoff and hemophilia A for sex-linked diseases and blood disorders. I am looking for a well known disease that had the disease causing gene or pathway identified by proteomics. Preferable something that could have only been discovered this way. This is a basic genetics course so I have been having problems finding clear cut cases.
If it doesn't fit into any other category post it here.
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- Angiotensin Member
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- Angiotensin Member
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Here's one possibility. Around 2000, DNA sequencing had progressed to the point that a multi-center study investigated the genomes of 21 different human cancer cell lines. Three were melanomas. All three melanoma lines proved to have defects in the same protein: B-Raf. This is the kinase downstream from the RAS kinase in the RAS phosphorylation cascade. They then scrutinized the gene for B-Raf in a large numbers of melanomas, and 60% of those had defects in that gene. A company called Plexxicon was started to hunt for small molecules that could inhibit the mutant form of B-Raf but not the normal one. They found one: PLX4032, cf. the story in Chemical & Engineering News on Sept. 8, 2010. This drug caused tumors to shrink in 81% of melanoma cases that had stopped responding to other treatment, an unheard-of response rate. Subsequently some of the melanomas developed resistance to the drug. Further investigation via proteomics revealed the existence of pathways in the RAS cascade that bypassed the blocked B-Raf step. Mapping the networks of protein interactions like this is a hot topic in proteomics research at the moment. Does this example serve your purpose?
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