Final answer:
Genetic mutations include various types such as point mutations and chromosomal mutations; they can lead to defective proteins but not always. Frameshift mutations and others, if not repaired by DNA repair mechanisms, can result in genetic disorders or diseases like cancer.
Step-by-step explanation:
Types of Genetic Mutations and Protein Function
We have discussed various types of genetic mutations, including point mutations leading to substitutions, insertions, deletions, and frameshift mutations. Chromosomal mutations, such as translocations, inversions, duplications, and large-scale deletions, also play a significant role in genetic variation. A mutation in a gene does not always result in a defective protein, but when it does, it can significantly impact an organism's health and function.
For instance, a substitution mutation can lead to diseases like sickle cell anemia, whereas nondisjunction can cause Down syndrome. Mutations are not always detrimental, as some can be neutral or even beneficial, contributing to evolutionary adaptation. Nevertheless, frameshift mutations can dramatically alter the protein's amino acid sequence, often resulting in nonfunctional proteins.
To prevent the detrimental impacts of mutations, organisms have developed DNA repair mechanisms. They work to correct mutations before they can affect protein synthesis. However, when these mechanisms fail or are overwhelmed, mutations can lead to genetic disorders or diseases like cancer.