Molecular medicine

Question 1

What is metabolism, anabolism and catabolism?

Answer 1

Metabolism are all the biochemical reactions that are occurring in the body.
Anabolism is the reaction that builds compounds and requires energy for this.
Catabolism is the reaction that breaks down compounds and releases energy.

Question 2

Give examples of the main classes of nutrients, both energy and non-energy producing

Answer 2

Energy producing are: Carbohydrates, proteins, fats
Non energy producing: vitamins, minerals, essential fats, essential amino acids

Question 3

Define and give examples of types of enzymes

Answer 3

Enzymes are compounds (mostly proteins) that are able to catalyse a reaction by reducing the activation energy without being used up.
The different types of enzymes are: kinases (remove phosphate groups),

Question 4

Give examples of types of regulation of enzyme activity

Answer 4

Temperature and pH have an effect on enzyme activity. They have an optimal temperature and pH. At very high temperatures, enzymes can be damaged (active site changes, making enzyme non-functional), at different pH, the enzyme can be inactive.

Question 5

Give an example of the pathogenic mechanism of an inborn error of metabolism

Answer 5

Phenylketonuria is a condition where the phenylalanine amino acid is not broken down, which results in its build up. This build up results in the formation of a plaque on the brain, which causes serious effects in a child if not treated. Their brain stops growing, they have intellectual difficulties, they lose their independence.
Another condition results in the inability for cells to up take and break down LDL, which results in its accumulation. This increases the risk of cardiovascular disease. It reduces the lifespan of an individual by 15 to 45 years, and untreated the individual can only live up to 20 years.

Question 6

Explain the pathogenic mechanisms resulting from an enzyme defect in a pathway

Question 7

Give an example of gene therapy

Answer 7

CRISPR - adding a gene that transcribes for the correct or missing protein
switching off a gene that is pathogenic

Question 8

Explain why a nutrient deficiency causes a disease

Answer 8

This is because some nutrients such as calcium, are important for structural integrity of teeth and bones. A deficiency of the nutrient will result in weakening of the bones and susceptibility to osteoporosis.