User:Maggie Stopa/Sandbox 1: Difference between revisions

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===M404 Mutation===
===M404 Mutation===
A 2018 study <ref name=”Paquette”>PMID:29452893</ref> argued that mutations that inhibit the proper binding of GPIHBP1 and LPL are suspected to cause chylomicronemia. A mutation that is believed to cause chylomicronemia is known as <scene name='87/877514/M404_mutation_site/1'>M404R</scene>. Within this mutation, the methionine is replaced with a large and hydrophilic arginine. While this missense mutation does not impact LPL secretion, it does affect the formation of the LPL-GPIHBP1 complex by disrupting LPL’s interaction with GPIHB1’s Val121, Glu122, Thr124, and Val126 residues. This disrupts the stabilization of the LPL-GPIHBP1 complex, which has been seen to negatively affect LPL’s ability to catalyze the hydrolysis of triglycerides.
A 2018 study <ref name=”Paquette”>PMID:29452893</ref> argued that mutations that inhibit the proper binding of GPIHBP1 and LPL are suspected to cause chylomicronemia. A mutation that is believed to cause chylomicronemia is known as <scene name='87/877513/M404_mutation_site/2'>M404R</scene>. Within this mutation, the methionine is replaced with a large and hydrophilic arginine. While this missense mutation does not impact LPL secretion, it does affect the formation of the LPL-GPIHBP1 complex by disrupting LPL’s interaction with GPIHB1’s Val121, Glu122, Thr124, and Val126 residues. This disrupts the stabilization of the LPL-GPIHBP1 complex, which has been seen to negatively affect LPL’s ability to catalyze the hydrolysis of triglycerides.




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