Mutations in enzymes can lead to serious or fatal disorders in humans and are the consequence of inherited abnormalities in the DNA of the affected individual. The mutation may be just as a single abnormal amino acid residue at a specific position in an enzyme encoded by a mutated gene.
What happens when an enzyme is mutated?
Mutations could cause a different or faulty protein to be synthesised . For example, if the protein is an important enzyme, the specific substrate might not fit into the substrate binding site. If it is a structural protein such as collagen, it might lose its strength.
What are the 4 types of gene mutations?
Summary
- Germline mutations occur in gametes. Somatic mutations occur in other body cells.
- Chromosomal alterations are mutations that change chromosome structure.
- Point mutations change a single nucleotide.
- Frameshift mutations are additions or deletions of nucleotides that cause a shift in the reading frame.
What diseases are caused by enzymes?
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- Familial hypercholesterolemia.
- Gaucher disease.
- Hunter syndrome.
- Krabbe disease.
- Maple syrup urine disease.
- Metachromatic leukodystrophy.
- Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
- Niemann-Pick.
Are enzymes always proteins?
An enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell.
What happens if an enzyme malfunction?
Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech and an enlarged liver and spleen.
What would happen if pepsin was mutated?
If pepsin got mutated, then the stomach wouldn’t be able to properly digest the food. This would cause the person to have bloating, heartburn, and stomach pains.
