Answered: A particular error in the CFTR gene…

Biochemistry

9th Edition

ISBN:9781319114671

Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.

Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.

Chapter1: Biochemistry: An Evolving Science

Section: Chapter Questions

Problem 1P

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Question

Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR (cystic fibrosis transmembrane-conductance regulator) gene, which encodes the CFTR protein. The cells of the lining of the lungs contain high levels of the CFTR protein in their membranes. Normally, CFTR contains a chloride ion channel, which permits chloride ions to pass from inside the cells to the cells’ surfaces. The surface chloride ions are able to attract water in the lungs, allowing for the formation of a water layer on the cells’ surfaces. This thin water layer is necessary to allow the cilia, the tiny hairs on the surface of the lining cells to move back and forth easily. This motion permits the removal of mucus from the lungs. A particular error in the CFTR gene results in the replacement of the amino acid Phe with Ser at residue 508 of the CFTR protein. Individuals afflicted with CF most often experience the presence of thick, dry and sticky mucus in the lungs, leading to chronic infections and breathing problems. Explain why such an amino acid replacement would result in the production of the thicker mucus in the lungs.

Expert Solution

INTRODUCTION

Cystic fibrosis is a type of autosomal recessive disorder which causes improper ion transport & results is lungs problem.

Cystic fibrosis is caused due to mutation in CFTR protein (cystic fibrosis transmembrane conductance regulator). The CFTR protein is a glycoprotein that has 1480 residues & is composed of 12 transmembrane helices.

CFTR acts as a chloride channel belonging to the ABC transporter family. It uses ATP to cause conformational change & open chloride channel & then the chloride molecules are transported along gradient. This attracts water which in turn keeps the lungs alveolar lining moist by maintain proper consistency of mucus.

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