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Discussion Starter · #1 ·
Scientists develop a technique that promotes intracellular folding and glycosylation of an abnormal transmembrane protein that would otherwise be degraded before reaching the cell surface. This technique would be most helpful in treating patients with?


A. Phenylketonuria
B. Sickle cell anemia
C. Marfan syndrome
D. Cystic fibrosis
E. Frederick’s ataxia

Source UW
 

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Option D is correct

The most common mutation responsible for cystic fibrosis is located on position 508 of the CFTR protein which renders it susceptible to damage due to defective posttranslational modification (folding).
 

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Discussion Starter · #5 ·
Cystic fibrosis:

F508 is the most common CFTR gene mutation in patients with cystic fibrosis (CF). This mutation deletes the three nucleotides that code for phenylalanine at amino acid position 508. F508 is the mutation responsible in approximately 70% of CF cases diagnosed worldwide.

The CFTR gene codes for the cystic fibrosis transmembrane regulator (CFTR) protein, an integral membrane protein. The F508 mutation causes abnormal protein folding and failure of glycosylation. The CFTR protein is degraded before it reaches the cell surface, causing its complete absence from the apical membrane of exocrine ductal epithelial cells. The molecular technique described in this question could help CF patients by restoring CFTR proteins to the membrane.
 

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thanks

hey thanks anila to add other example of defect of protein folding. its help a lot
anyone has also more example than post it
nd thanks other guys also explanation..........you are doing such a nice job......share a knowledge also improve our knowldge
thanks a lot to all of you:)

D)Cystic fibrosis

p.s the other diseases related to defect in protein folding = Alpha1 antitrypsin deficiency & G6PD Deficiency..
 

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hey thanks anila to add other example of defect of protein folding. its help a lot
anyone has also more example than post it
nd thanks other guys also explanation..........you are doing such a nice job......share a knowledge also improve our knowldge
thanks a lot to all of you:)
u are welcome:)
 
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