BIMM 110 Lecture Notes - Lecture 6: Monogenetic Volcanic Field, Insertional Mutagenesis, Preimplantation Genetic Diagnosis
Document Summary
Affects nutrition, cannot absorb nutrients diabetes, need to learn for to compensate. F508del is present on one or both cftr allele in 90% of people with. Multi-domain chloride ion channel expressed at the cell surface of epithelial cells. Opened and closed (gated) by atp binding and hydrolysis. Channel opening requires phosphorylation by protein kinase a. Regulates epithelial ion and fluid transport to facilitate airway clearance: mucus does not move infections, no pancreatic enzymes and airway interference. Loss of cl- transport causes multiple clinical manefestations. Level of cftr dysfunction linked to disease phenotype mutations in cftr can reduce the quantity and/or function of cftr at the cell surface. 2 small molecule approaches to enhance cl- transport. Cftr correctors (lumacaftor, vx-661: facilitate inc chloride transport by increasing the quantity of functional cftr delivered to the cell surface. Cftr potentitator (ivacaftor: facilitate cl- transport by potentiating the channel-open probability (or gating) of cftr at the cell surface.