What are the levels of protein structure for the Cystic Fibrosis
Transmembrane conductance regulator? Including primary,...
What are the levels of protein structure for the Cystic Fibrosis
Transmembrane conductance regulator? Including primary, secondary,
tertiary, and quaternary.
Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is an
ABC transporter that allows passage of chloride ions across the
plasma membranes of epithelial cells. Mutations in the gene for
CSTR cause a decrease in fluid and salt secretion by CFTR and
result in cystic fibrosis. In 70% cases of the disease, the
mutation is a deletion of a Phe residue at position 508. The mutant
protein folds incorrectly, which interferes with its insertion in
the plasma membrane, and as a consequence,...
Cystic fibrosis is an autosomal recessive genetic disorder
resulting from the absence of a functional transmembrane
conductance regulator (CFTR) protein. A woman whose older sister
has a son with the disorder is concerned that she will also have a
child with cystic fibrosis. The woman’s husband is healthy but he
had a paternal uncle who died of cystic fibrosis as a teenager.
A. Based on the information given above, draw a
pedigree for the couple and the extended families...
Description of cystic fibrosis?
What has changed in cystic fibrosis to allow it to cause a
genetic disorder? Explain how this differs from the gene's normal
function.Is it possible for parents to not have the disorder, but
pass it on to their children?
What kind of dominance pattern does cystic fibrosis show?
What problem(s) is/are caused to a person who inherits the
cystic fibrosis gene? Is this typically inherited from the mother
or the father?
Describe an experiment that you...
Why does the primary structure impact all levels of protein
structure? What is unique about the peptide bond that directly
impacts protein structure? What intermolecular forces stabilize
protein structure? Consider protein denaturation, what
environmental forces can cause a protein to lose its structure?
What types of interactions are they disrupting? Many proteins
require chaperones to properly fold. How do chaperones help
proteins fold? What potential problems might arise from a misfolded
protein? (An example from the text may be useful...
Cystic Fibrosis is a disease caused by a defect in a Chloride
ion transport channel protein. The channel performs a critical
function in the lungs; thus, disease sufferers have trouble
clearing mucous from their lungs, leaving them susceptible to
opportunistic infections.
Discuss how this protein may function (normally) in the lung
& hypothesize on possible treatment schemes.
1. In cystic fibrosis one amino acid is missing in the CFTR
protein. Explain why this mutant protein will not end up in the
plasma membrane. (You may need to investigate the normal function
of this CFTR gene)
2. Why might a mutation in the DNA NOT lead to an abnormally
functioning protein?
3. Describe one genetic disorder in which a gene is mutated and
leads to abnormal protein folding ( other than Huntington’s). In
“your disorder”, name the gene...
Question 1. Cystic Fibrosis (CF) is an example
of a protein mis-folding disorder since most of the mutations
associated with CF lead to the improper folding and processing of
the plasma membrane-localized Cystic Fibrosis Transmembrane
Conductance Regulator ion channel (CFTR).
The CFTR protein initially enters
the endomembrane system through the process of co-translational
translocation into the endoplasmic reticulum (ER) and is inserted
as a Type IV membrane protein. N-linked glycosylation of the CFTR
protein then takes place in the ER...