CFTR and Cyctic Fibroses

3104743_cftr_and_cyctic_fibroses_inst_1

I need a paragraph for each question on CFTR and Cystic Fibrosis. I will upload the questions

CFTR and Cystic Fibroses

1. Presentation of the disorder: a paragraph summarizing what the disorder is about, imaginary example: An autosomal dominant disorder affecting the metabolism of gangliosides in the brain. This result in accumulation of plaques and mental retardation. The enzyme affected is heptatransferase, coded in the HEPTA gene. It could be a famous person suffering from the disorder, or anything to “catch” the eye. Use common sense and good taste.

2. 1-2 paragraphs related to the protein and the gene: Protein involved and the pathway/process affected. Location of the gene, mutation causing the disorder.

3. Inheritance pattern: the inheritance pattern and any association with specific populations or risk factors. This is a good spot to show graphs, statistics, or example pedigrees.

4. Time of appearance, symptoms, treatment (if available), any other facts.

5. Reference slide: list the sites/sources you have visited. Minimum 5, not including wikipedia. For the information about the disorder, you should include at least one reference from a professional website/database (example: Medscape, Entrez, Epocrates, or the informative page from an official organization dedicated to that disorder. If in doubt what counts as a reputable reference, please ask.)