Asked by Ashlyn😘
Cystic fibrosis is an inherited disorder that is caused when three bases are accidentally removed from the CFTR gene. Which of the following is true about cystic fibrosis?
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True statements about cystic fibrosis (caused by the common ΔF508 mutation — deletion of three bases in CFTR):
- The three-base deletion removes a single codon (phenylalanine at position 508), so it is an in‑frame deletion and does NOT produce a frameshift.
- It is inherited in an autosomal recessive pattern.
- The deletion causes misfolding of the CFTR protein → defective processing/trafficking (protein is retained in the ER and degraded), resulting in loss of CFTR chloride‑channel function at the cell membrane.
- Loss of CFTR function causes decreased Cl− secretion and increased Na+ and water reabsorption across epithelia → thick, sticky mucus in lungs, pancreatic insufficiency, male infertility (absent vas deferens), etc.
- The three-base deletion removes a single codon (phenylalanine at position 508), so it is an in‑frame deletion and does NOT produce a frameshift.
- It is inherited in an autosomal recessive pattern.
- The deletion causes misfolding of the CFTR protein → defective processing/trafficking (protein is retained in the ER and degraded), resulting in loss of CFTR chloride‑channel function at the cell membrane.
- Loss of CFTR function causes decreased Cl− secretion and increased Na+ and water reabsorption across epithelia → thick, sticky mucus in lungs, pancreatic insufficiency, male infertility (absent vas deferens), etc.
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