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Niemann-Pick Type C: A Case Study

Decent Essays

I have selected to discuss Niemann-Pick type C because I am unfamiliar with it

1. Describe the symptoms/outcomes of the disorder.

Symptoms - Enlarged Spleen, Enlarged liver, Loss Of Muscle Tone, Difficult Moving Limbs, seizures,delayed motor development beginning before age 2

2. Identify the organelle that is affected.

The Endoplasmic Reticulum (smooth)

Niemann-Pick type C affects lipids within the cell. According to nnpdf.org " NPC Patients are not able to metabolize cholesterol"

3. Discuss the normal function of this organelle and how its function is disrupted.

The ER makes lipids, breaks down and packages proteins for the Golgi complex. The Golgi Complex processes and transports and proteins out the cell. (Nnpdf.org, 2016)

4. What conclusions can you draw about the importance of this organelle in the cell? …show more content…

The heart, nails, musicals, and hair use protein. SO DEATH!! (Nnpdf.org, 2016)

The smooth Endoplasmic Reticulum makes lipids and steroids like cholesterol. ------ This is key! (Nnpdf.org, 2016)

5. Based on what you have learned about cell structure, predict how a cell from this disorder would look like under the microscope.

I think the cell from NPC would look like clusters of bumps attacking the smooth Endoplasmic Reticulum

6. Based on the cell biology, what options do you have to treat the disorder?

NPC currently does not have a specific treatment. (Parseghian.org,

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