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Mutation changes the amino acid sequence, structure and function of enzyme.
PAH enzyme is responsible for the first step in processing phenylalanine, which is a building block of proteins i.e. an amino acid which is obtained through the diet. If a mutation occur in the gene that codes for the PAH enzyme changes the structure of PAH enzyme which directly affect the functions of enzyme.
Mutation changes the sequence of amino acid as well as the structure of PAH enzyme which affected the function of enzymes so we can conclude that mutation changes the amino acid sequence, structure and function of enzyme.
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If a mutation in the gene that codes for phenyl alanine hydroxylase occurs:
- the amino acid sequence of the enzyme is altered,
- the secondary, tertiary and quaternary structure of the enzyme is altered and the enzyme does not fold properly for catalytic activity, and
- the enzyme loses its catalytic function resulting in the disease condition, phenyl ketonuria.
Mutations are changes which occur in the genes of living organisms.
Some of these changes do not have any effect on the information stored in these genes. However, sometimes these changes have deleterious effects on living organisms.
Since proteins such as enzymes are made from genes, any mutation that affects a gene coding for a protein will affect the function of the protein.
The information stored in genes is used to assemble amino acids for protein synthesis.
Phenyl alanine hydroxylase is an enzyme that catalyzes the conversion of phenyl alanine to tyrosine.
Phenyl alanine is found in all proteins and in the artificial sweetener aspartame.
When a mutation such as a substitution, insertion or deletion of a nucleotide in the gene encoding the enzyme phenyl alanine hydroxylase occurs, the amino acid sequence is altered, resulting in an addition or omission of an amino acid in the sequence of amino acids of the enzyme phenyl alanine hydroxylase.
The function of a protein such as enzymes depends on the primary structure of the amino acids in the protein.
If the primary structure of the amino acid is altered, the secondary, tertiary and quaternary structure of the protein will be altered and the protein will lose its activity.
In individuals with phenyl ketonuria, the enzyme phenyl alanine hydroxylase is defective resulting in the accumulation of dietary phenyl alanine and phenyl pyruvic acid in the body which is then excreted in large quantities in their urine.
In infants with phenyl ketonuria, several disabilities like intellectual disorders, seizures, delayed development, are seen.
Therefore, a mutation in the gene encoding the enzyme phenyl alanine hydroxylase results in formation of defective enzyme which leads to onset and severity in the disease condition, phenyl ketonuria.
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