Explain a missense mutation

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Wolcott-Rallison Syndrome (WRS) is an autosomal recessive disorder characterized by early infancy type 1 diabetes and stunted growth. This is caused by a mutation (a point mutation changing a T to a C, leading to a missense mutation) in the EIF2AK3 gene. When not mutated, this gene codes for a type of protein called a kinase. This particular protein is necessary for a special pancreatic cell, called an islet cell, to function. Islet cells main function is to secrete proteins for the body. The mutation in this gene and subsequent loss of this proteins production can cause diabetes, WRS and other issues as well. Specifically, this kinase is important for regulating translation initiation and accurate protein folding.

a. Explain a missense mutation. Why does it have such a dramatic effect on the gene EIF2AK3 in this scenerio?

b. Explain, using what you know of Translation, why the mutation of this kinase is so detrimental to the body. Answer on a molecular level and an organismal level.

Reference no: EM132486886

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