Question

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease that causes cysts in the kidneys that can lead to kidney failure. The most common gene mutated in this disease is PKD1. Imagine that you are researcher working on ADPKD and a doctor has provided you with biological samples from patient with ADPKD. You have been tasked with identifying the mutation in PKD1 and then to test how this mutation affects protein function. Use the links provided to research ADPKD and PKD1 along with what we learned in class to answer the following questions.

1.Design an experiment to test the dysfunction of the mutant protein.

a.What is your hypothesis?

b.What technique would you use and why?

c.What is information would the technique provide?

d.How could your experiment help in the treatment or prevention of the disease?

Answer 1

a) Hypothesis: Mutation in PKD1 is related for polycystic kidney disease (ADPKD).

b) If we have the biological sample for ADPKD disease, then to test whether PDK1 expression was down-regulated in the pateint with ADPKD disease. To perform this, pateint sample material will be utilized to get mRNA and protein. Once mRNA is isolated fro pateints havig ADPKD disease, we can perform real time RT PCR to check the level of PDK1 mRNA expression. If PDK1 is responsible for ADPKD and if the PDK1 gene is mutated in paeints, we will get low level oif PDK1 mRNA expression in coparisin to normal person. On the other hand we can also perform western blot to identify the level of PDK1 protein expression.

c) The techniques will provide information about PDK1 mRNA and protein level from the biological samples isolated from pateints.

d) Autosomal dominant polycystic kidney disease (ADPKD) is a genetic inherited disorder.and we can take only preventive measurements against ADPKD. Once we confirm the presence of reduced amount of PDK1 RNA and protein level , we can confirm the presence of ADPKD for particular pateint and can plan treatment accordingly.