Question

In: Biology

You are a genetic counselor and the year is 2035. All of the CRISPR technologies have...

You are a genetic counselor and the year is 2035. All of the CRISPR technologies have become safe and reliable for therapeutic use in humans. One of your patients presents a wasting disease where they fail to produce enough collagen in their bones. You find no mutations in the coding region of the collagen gene and the protein is at healthy levels in all other tissues. Fully explain the steps that you would suggest to treat the disease, including what molecules are necessary for each step?

Solutions

Expert Solution

To treat the defective collagen in bones of the patients who have no mutations in the coding region of the gene and the protein at healthy levels in other tissues some of the steps that would be suggested will be the following:

1. Defect in the untranslated regions where the promoter sequence and RNA polymerase region will be present. Because of this the protein may not be expressed in usual levels in the bones because the environment in the bone with respect to the molecular makeup is not suitable for the translation of enough proteins.

2. The protein transporters present on the bone tissue which in the bone tissue may be impaired for the intake of the vitamin C. The vitamin C is essential in the post translational modification of collagen and hence if it is not correctly modified then the further process of propeptide formation and cleavage wont be occuring as a result a defective collagen level will be seen in the bones.

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