Using ONE chloride channel or transporter as an example, discuss the different ways by which mutations affect protein function and cause human disease. Explain how our understanding of these mechanisms could direct the development of new treatments.

 

Please use CLC-KB channel as example.

 

Introduction (to include):

-General introduction to chloride channels

-General introduction to CLC-KB

-mention how mutations affect protein function and what disease can be caused by CLC-KB mutation

 

Main body (general plan):

-from one scientific papers explain the different mutations to CLCKB, how each affects protein function to cause the disease, experimental evidence that proves it, how the mutations/disease helps understanding of CLCKB and how It can direct new treatment. Use detailed example of disease, experiment, treatment, not hypothetical statements or just stating it can help for new treatments.

 

Repeat for more paragraphs to show different mutations.

 

-e.g. focus on Bartter and different mutations of the disease and then add a paragraph on deafness, experiments to show mutation in CLCKB, how it works/treatment and how the mutations in Bartter helped understand function and disease and help target treatment. Use this info to then add a paragraph of more recent findings on other diseases such as deafness and hypertension/heart disease as an extra. And how now that we know more from mutations could target treatment here too.

(e.g. 2: could instead do paragraph on different diseases from different mutations but explain how all help understand each other: one paragraph for barter, deafness, hypertension (explain could then lead to heart failure/CHD). Use examples of experiments to prove points in each disease)