To propose: The reasons why the CFTR channel may not be present in the plasma membrane of some cystic fibrosis patients or may not function correctly in other patients. Introduction: Cystic fibrosis is the inherited genetic autosomal recessive disorder. It is caused by the mutation in the gene that codes for transmembrane protein channel and that allows for the movement of chloride ions. As a result of this, the body produces thick and sticky mucus that obstructs the lungs.

Question

Want to see the full answer?

Answer 1

Question

Chapter 3, Problem 1FFT

Summary Introduction

To propose: The reasons why the CFTR channel may not be present in the plasma membrane of some cystic fibrosis patients or may not function correctly in other patients.

Introduction: Cystic fibrosis is the inherited genetic autosomal recessive disorder. It is caused by the mutation in the gene that codes for transmembrane protein channel and that allows for the movement of chloride ions. As a result of this, the body produces thick and sticky mucus that obstructs the lungs.

Expert Solution & Answer

Want to see the full answer?

Check out a sample textbook solution

See solution

Students have asked these similar questions

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…

A genetic mutation leads to reduced function/loss of function of the V-ATPase on the surface of cellular lysosomes. Explain the role of the V-ATPase on the lysosomal membrane and the possible consequences of the reduced/lost function of this membrane protein.

A human gene called theCFTR gene (for cystic fibrosis transmembrane regulator) encodes aprotein that functions in the transport of chloride ions across the cellmembrane. Most people have two copies of a functional CFTR geneand do not have cystic fibrosis. However, a mutant version of the CFTRgene is found in some people. If a person has two mutant copies ofthe gene, he or she develops the disease known as cystic fibrosis. Arethe following descriptions of this disease related to genetics at themolecular, cellular, organism, or population level?A. People with cystic fibrosis have lung problems due to a buildupof thick mucus in their lungs.B. The mutant CFTR gene encodes a defective chloride transporter.C. A defect in the chloride transporter causes a salt imbalance inlung cells.D. Scientists have wondered why the mutant CFTR gene is relativelycommon. In fact, it is the most common mutant gene that causesa severe disease in persons of Northern European descent. Onepossible explanation why…