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Biblioteka

DE_LE_Unit5_Benchmark_Master

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Posljednje ažuriranje 8 months ago
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Pitanje 1
1.

Cystic Fibrosis

Cystic fibrosis is a serious disease that affects around 1 in 2,500 live births in Caucasian populations. It can affect many organs, including the lungs, pancreas, liver, kidneys, and intestine. The disease causes a buildup of thick mucus in these organs that can clog them, preventing them from functioning properly. One of the most serious effects of this disease is the mucus in the lungs, which prevents breathing and traps bacteria.

Cystic fibrosis is caused by mutations in the gene for the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). This protein is responsible for secreting fluids across cell membranes. When the CFTR protein does not function properly, the mucus will become much thicker, leading to symptoms of cystic fibrosis, such as respiratory infections in the lungs.

The disease is usually inherited in an autosomal recessive manner. Many patients develop symptoms starting when they are children.

Mutations in the CFTR gene can cause a disease that affects the entire organism. Arrange these levels of biological organization in order of increasing complexity to explain how a mutation in a molecule can result in dysfunction of the entire organism.

  1. cells

  2. organisms

  3. molecules

  4. tissues

  5. organs

Pitanje 2
2.

Although most cases of cystic fibrosis are inherited in an autosomal recessive manner, it is possible that cystic fibrosis can arise spontaneously in some patients. Determine whether each of the scenarios below is most consistent with inherited or spontaneous CFTR mutations.

  • Errors in CFTR were introduced in replication

  • Both parents carry the same mutation

  • Not every cell of the patient has the mutation

  • Cousins also have the same CFTR mutation

  • One parent has two normal copies of CFTR

  • Inherited mutation

  • Spontaneous mutation

Pitanje 3
3.

As its name suggests, CFTR is a protein found in cell membranes that is responsible for regulating electrical currents through the membrane. It does this by moving negatively charged ions across the cell membrane. As these ions travel across the membrane, water is also secreted from the cytoplasm inside the cell into the extracellular side outside the cell. This activity can be regulated by several different signals, including post-translational modifications, interactions between molecules, and changes in cell volume.

Some scientists hypothesized that CFTR is involved in negative feedback mechanisms to regulate cell volume. To study the role of cell volume in regulating CFTR, the scientists injected small volumes of buffer into a cell expressing normal CFTR. They then measured the amount of current conducted by the CFTR channels in these cells. The data they collected is shown below. Cell Volume

Mutant CFTR channels do not function as well as normal CFTR channels. This means less water is moved to the extracellular side. As a result, mucus in cystic fibrosis patients is less watery than normal.

Based on the data collected by the scientists, what would you expect to observe in cells of cystic fibrosis patients expressing mutated CFTR when buffer is injected into them?

Pitanje 4
4.

To study the mutations that cause cystic fibrosis, scientists measured currents from cells expressing normal and mutant CFTR channels. The amount of current they observed from each channel is shown below. Mutant CurrentsThe scientists observe that mutations in CFTR severely affect channel function. Explain how mutations in the CFTR gene can cause the observed changes in channel current.

Mutations in the CFTR gene can result in correctly in order to function. Mutations can cause errors in this process so that they do not interact with ions in the expected manner. This can result in the observed data where mutant currents are