Question

Cystic fibrosis is an autosomal recessive disease often caused by a deletion of a few nucleotides leading to a frameshift mutation. this results in the cftr protein being nonfunctional thus leading to frequent lung infections causing difficulty breathing

what is a possible cause and mechanism of this frameshift mutation?

Answer 1

Cystic fibrosis is an autosomal recessive genetic disease that can be caused by frameshift mutations in the CFTR gene, leading to the production of nonfunctional proteins and the accumulation of thick mucus in the lungs and digestive organs.

Step-by-step explanation:

Cystic fibrosis (CF) is an autosomal recessive genetic disease known for creating thick mucus that clogs the lungs and digestive organs, leading to frequent lung infections and nutrient malabsorption. The disease is caused by mutations in the CFTR gene, which produces a protein responsible for transporting chloride ions across cell membranes. Frameshift mutations, such as the deletion of a few nucleotides, can alter the DNA reading frame, resulting in a nonfunctional CFTR protein. This defective protein cannot be properly incorporated into the cell membrane, leading to the accumulation of thick mucus that characterizes CF. A possible cause of frameshift mutations is errors in DNA replication or repair mechanisms, or the influence of mutagens that damage the genetic code.

Medical advancements have allowed individuals with CF to live into middle adulthood, a significant improvement from past prognoses. However, it remains a serious disease with complex management requirements.