Why is the 3-dimensional shape of a macromolecule (ex: protein) important to know from the perspective of understanding the molecular basis of human disease? 2 pts
A/ Mutations in genes that cause a change in amino acid primary sequence can cause a change in the protein's function in a
cell. For example, it can cause the protein to mislocalize; the protein is now recruited to a specific site in the cell, like the
nucleus, where it can cause cellular dysfunction.
B/ If the protein is an enzyme, the 3-dimensional shape of the active site can be altered and decrease the rate of a reaction that
is catalyzed by that enzyme.
C/ If the protein is an enzyme, the 3-dimensional shape of the active site can be altered and increase the rate of a reaction that
is catalyzed by that enzyme.
D/ Only options A and B may be true.
F/Antions A, B and C may be true.

A, B and C may be true

Explanation:

The three-dimensional structure (3D) of a protein, also known as tertiary structure, is critical to its function. In general, the 3D protein structure consists of alpha-helix and beta-sheets (secondary structures) associated through disordered coiled-coil regions. Genetic mutations may cause modifications in the 3D protein structure by modifying amino acids that are added to the growing polypeptide chain during the process of translation. In consequence, the relationships among amino acids (i.e., the intermolecular attractive forces that hold them together) may also be altered by these mutations. In general, mutations that generate amino acid changes at the active site of the enzyme will have a deleterious effect, thereby decreasing or inactivating protein function. However, there are situations where a mutation may be beneficial and can eventually increase the rate of reaction of a protein.