Genetic mutations can greatly affect how proteins are shaped, which is really important for how they work.
The shape of a protein is called its tertiary structure. It’s like a 3D model made from long chains of amino acids that fold up. Here’s how mutations can change this:
Changing Amino Acids: Sometimes, a mutation swaps one amino acid for another one that acts differently. For example, if glutamic acid (which has a negative charge) is replaced with valine (which doesn’t mix well with water) in hemoglobin, it can cause a disease called sickle cell anemia. This swap can change how the protein looks and works.
Breaking Stabilizing Bonds: Proteins stay strong and stable because of things like hydrogen bonds and other connections. If a mutation messes up one of these important connections, the protein might not fold correctly or could become weak.
Active Site Changes: In some proteins called enzymes, mutations can change the shape of the active site—the part that helps it do its job. This can make it harder for the enzyme to connect with what it needs to work on. For example, a mutation in lactate dehydrogenase can hurt its ability to turn lactate into pyruvate.
In short, genetic mutations can cause big changes in how proteins are shaped and how they work, leading to important effects on living things.
Genetic mutations can greatly affect how proteins are shaped, which is really important for how they work.
The shape of a protein is called its tertiary structure. It’s like a 3D model made from long chains of amino acids that fold up. Here’s how mutations can change this:
Changing Amino Acids: Sometimes, a mutation swaps one amino acid for another one that acts differently. For example, if glutamic acid (which has a negative charge) is replaced with valine (which doesn’t mix well with water) in hemoglobin, it can cause a disease called sickle cell anemia. This swap can change how the protein looks and works.
Breaking Stabilizing Bonds: Proteins stay strong and stable because of things like hydrogen bonds and other connections. If a mutation messes up one of these important connections, the protein might not fold correctly or could become weak.
Active Site Changes: In some proteins called enzymes, mutations can change the shape of the active site—the part that helps it do its job. This can make it harder for the enzyme to connect with what it needs to work on. For example, a mutation in lactate dehydrogenase can hurt its ability to turn lactate into pyruvate.
In short, genetic mutations can cause big changes in how proteins are shaped and how they work, leading to important effects on living things.