Question

Specific to the CFTR protein in CF, describe how the changes in this protein affects cellular function and the patients health.

Answer 1

CFTR (Cystic fibrosis transmembrane conductance regulator) is a membrane protein and chloride channel in the epithelial lining of nasal mucosa, lungs, stomach

This CFTR protein is encoded by CFTR gene located on the chromosome number 7.

CYSTIC FIBROSIS is a genetic disorder is a autosomal recessive disorder characterised by the mutation in the CFTR gene result in the production of defective CFTR protein.

FUNCTION OF CFTR PROTEIN :Movement of water and chloride across the epithelial cell.

when the CFTR gene get mutated, defective CFTR protein is generated, so that the movement of water and chloride ion does not takesplace, resulting in the production of thick and sticky mucus.This thick and sticky mucus clog the respiratory tubes and result in sign and symptoms like persistant cough, recurrent sinusitis,wheezing,

it also effect the digestive tract , produces symptoms like

• Foul-smelling, greasy stools
• Poor weight gain and growth
• Intestinal blockage, particularly in newborns (meconium ileus)
• Chronic or severe constipation

sometimes cystic fibrosis causes complications,they are

nasal polyp

hemoptysis

pneumothorax

respiratory failure