Organelles and disease

Organelles and Disease Group Discussion

Read about each of the diseases associated with faulty cell organelles or structures. Based on the descriptions and what you have learned about cells, decide which cell structure is involved. Note that I am looking for one of the cell structures/organelles that you learned about in this chapter. (Many of these are genetic in nature, so have mutated DNA and faulty proteins. But I am NOT looking for the specific mutation or faulty protein). Provide evidence for your decisions, based on what you know about the functions of these cell structures. You do not need to do a Google search or provide sources. I want you to apply what you’ve learned in the chapter as evidence.

Next week, you will collaborate as group and come up with a consensus. Submit ONE DOCUMENT with the final group answers to the “Organelles and Disease” assignment folder. Include the names of participating individuals on the final document.
****To receive full credit for this assignment, you must have submitted a completed original post and participated in the discussion/drafting of the final document in the discussion board.

1. Gaucher disease, Fabry disease, Pompe, and Niemann-Pick disease storage disorders get their name because they are caused by the storage, or accumulation, of waste material and other substances inside this organelle or cell structure. Each disease is missing a specific type of enzymes that specifically target a variety of different cellular substances. These diseases are genetic in basis, meaning they are due to a defect in a gene inherited from the parents. These diseases are progressive in nature, meaning they worsen over time. They are debilitating and can be life-threatening.
Organelle/Cell Structure:
Evidence:
2. Cystic fibrosis is a genetic disease involving defective ion channels which interferes with the passage of water through this organelle or cell structure, resulting in thicker mucous and saltier sweat. Individuals have salty skin and thick secretions. Individuals have difficulty breathing due to thick mucous in the respiratory passages. They are at high risk of bacterial infections due to the mucous build-up.
Organelle/Cell Structure:
Evidence:
3. Tangier disease or Hypoalphalipoproteinemia is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as “good cholesterol,” in the bloodstream. Tangiers is a disorder of intracellular traffic. People with Tangier disease have a greatly reduced ability to transport cholesterol out of their cells, which leads to an accumulation of cholesterol in many body tissues. People affected by this condition also have slightly elevated amounts of fat in the blood and disturbances in nerve function. Affected people often develop premature atherosclerosis, which is characterized by fatty deposits and scar-like tissue lining the arteries. Other signs of this condition may include an enlarged spleen, an enlarged liver, clouding of the cornea, and early-onset cardiovascular disease. It is believed that a defective organelle or cell structure is involved with this disease.
Organelle/Cell Structure:
Evidence:
4. Muscular Dystrophy is a genetic disease involving progressive muscle weakness. Severe forms of MD can be fatal. Mutations in the dystrophin gene are responsible for the disease. Dystrophin is an integral component of muscle fibers. Dystrophin is believed to provide a molecular link between the actin filaments and the extracellular matrix (adhesive proteins on the outside of the cell) in muscle cells, thereby sustaining fiber integrity during muscle contraction. Dystrophin also provides mechanical strength and a supporting framework within the muscle cell. What organelle or cell structure is disrupted in this disease?
Organelle/Cell Structure:
Evidence:

Last Completed Projects