How do mutations affect protein function?

Mutations in DNA can lead to changes in the sequence of amino acids in proteins, altering their structure and ultimately affecting their function. These changes can have various impacts on protein function, including:

Protein Structure:

Mutations can cause misfolding of proteins, leading to the loss of their normal structure. This can impair their ability to interact with other molecules and carry out their functions effectively.

Enzyme Function:

If a mutation occurs in a gene encoding an enzyme, it can affect the enzyme's catalytic activity, substrate specificity, or stability. This can disrupt metabolic pathways and cellular functions.

Genetic Diseases:

Many genetic disorders are caused by mutations that result in dysfunctional proteins. These disorders can affect various systems in the body, leading to a range of symptoms and health issues.

Targeted Therapies:

Understanding how mutations impact protein function is crucial for developing targeted therapies for genetic diseases. By identifying specific mutations and their effects on proteins, researchers can develop treatments that aim to correct or compensate for these abnormalities.