What type of mutation can lead to diseases such as cystic fibrosis?

Cystic fibrosis arises primarily from a specific type of mutation known as a deletion mutation, particularly involving the CFTR gene. In cystic fibrosis, a common mutation involves the deletion of three nucleotide bases, which results in the loss of a single amino acid (phenylalanine) in the protein sequence. This deletion disrupts the proper folding and function of the CFTR protein, which is essential for the transport of chloride ions across epithelial cell membranes. The malfunction leads to the thick, sticky mucus characteristic of the disease, which can cause severe respiratory and digestive issues.

While point mutations, frameshift mutations, and insertion mutations can also cause genetic diseases, they operate through different mechanisms that lead to alterations in the way proteins are synthesized or function. In the case of cystic fibrosis, the implication of a deletion mutation uniquely defines how the disorder manifests, particularly emphasizing the impact of the missing amino acid on the CFTR protein’s functionality.