Question

Using the Library link or any biology websites to find an enzyme that is related to either a disease or a condition (human, animal or plant) and place a summarizing paragraph on the thread below.

Consider including:

1. 1 point description of disease or condition

2. 1 point for a brief description of the symptoms of the disease or expression in plants

3. 1 point for description of the protein involved

4. 1 point for anecdote(story) related to the disease or interesting information about the condition.

5. 1 point for relating disease to specific cell organelle

Answer 1

1:

von Gierke disease: Also called type I glycogen storage disease (GSD I)

In this disease glucose 6-phosphatase is missing from the liver of a patient.

Glucose 6-phosphatase is an enzyme that hydrolyzes glucose 6-phosphate, resulting in the creation of a phosphate group and free glucose.

The absence of glucose 6-phosphatase causes hypoglycemia because glucose cannot be formed from glucose 6-phosphate. This phosphorylated sugar does not leave the liver, because it cannot cross plasma membrane.

The presence of excess glucose 6- phosphate triggers an increase in glycolysis in the liver, leading to a high level of lactate and pyruvate in the blood.

2: Since all the enzymes are protein molecule. So the protein involved in this disease is glucose 6-phosphatase.

3: A patient with this disease has a huge abdomen caused by a massive enlargement of the liver. An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged.

4: Lumen of endoplasmic reticulum

Glucose 6-phosphate must be transported into the lumen of endoplasmic reticulum to be hydrolysed by phosphatase.

Note: This disease can also be produced by a mutation in gene that encodes the glucose 6-phosphate transporter. Glucose 6-phosphate must be transported into the lumen of endoplasmic reticulum to be hydrolysed by phosphatase.