6. Cystic fibrosis (CF an inherited disorder caused by different types of mutati

Question

6. Cystic fibrosis (CF an inherited disorder caused by different types of mutations, many of which prevent ions from moving across cell membranes. Normally there are channel proteins that allow passage of the ions, but in patients with one kind of CF these proteins seem odd. Closer examination shows that these proteins display the correct aminoacid sequence; they fail to do their job. Explain what can cause the malfunctioning of those proteins given that their aminoacid sequence is correct, include: a) an explanation linking protein structure with protein function, b) your hypothesis of what is missing in the cell that results in the malfunction of these proteins.

Explanation / Answer

a)

Even though the sequence of protein is not altered, may be the folding of protein is malfunctioned. The function of protein depends on both its amino acid sequence and its folded form. Usually, after synthesis proteins enter into second phase of modifications called posttranslational modifications. If the protein has improper modifications, it will lead to improper folding, which ultimately affect the function of protein.

b) If the cell does not have proper protein folding and transfer mechanism, then it would affect the function of protein.         

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