Cystic fibrosis genetic disease caused by mutations

Cystic fibrosis genetic disease caused by mutations

This is an assignment that discusses the Cystic fibrosis genetic disease. This is a genetic mutational disease in the CFTR gene. Additionally, the paper identifies the other drugs that are related in the disease.

Cystic fibrosis genetic disease caused by mutational disease in the CFTR gene

Firstly, Cystic fibrosis is genetic disease brought about by mutations in the CFTR gene. The consequence of this is production of an abnormal transmembrane protein that is responsible for producing sweat, mucus, and digestive fluids. Explain in depth the correlation between the defective gene and the abnormal protein production. Be sure to mention the process involved in protein production, whether or not those process(s) have properly occurred, and their end products.

Secondly,  A depressed person attempts to commit suicide by taking a whole bottle of sleeping pills. The pills cause a drastic decrease in the pH. The patient starts having breathing difficulties because the thick and thin filaments within the respiratory muscles are breaking down. Explain in depth the correlation between the person’s pH and why their respiratory muscles are breaking down.

Thirdly, Phenytoin (sodium channel blocker) and ethosuximide (calcium channel blocker) are anti-seizure drugs that stop seizures from happening. These drugs work by inhibiting electrical impulses (action potentials) from occurring. Explain the importance of sodium and calcium channels on a neuron and and the reasons why action potentials do not occur when these channels are inhibited. Additionally, be sure to include the phases of an action potential, the channels involved, and the importance of an action potential.

Fourthly,  A newborn exhibits signs of respiratory distress due to the lack of surfactant. She has signs of low oxygen and high carbon dioxide. Explain why the lack of surfactant would result in respiratory distress. Furthermore, what type of acid-base disorder might she develop and how would her body compensate.