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Cystic Fibrosis is caused by the lack of a gene that makes CFTR Channel act normally. How does the gene control the CFTR channel?

User Volma
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Final answer:

The CFTR gene mutation in cystic fibrosis leads to the formation of faulty CFTR channels that cannot transport Cl- ions, resulting in thick mucus that clogs organs and causes health issues. This autosomal recessive disease requires two copies of the defective gene to manifest.

Step-by-step explanation:

The gene control of the CFTR channel? is essential for proper lung and digestive system function. In cystic fibrosis, the CFTR gene mutation leads to the production of a defective channel protein that fails to get incorporated into the cell membrane resulting in the protein being degraded. This impaired CFTR protein cannot transport chloride ions (Cl-) efficiently, which is crucial for drawing water into the mucus, leading to thick and sticky mucus production. Consequently, organs secreting mucus like the lungs and pancreas get clogged, causing chronic lung infections and digestive issues. Furthermore, cystic fibrosis is an autosomal recessive genetic disease, meaning that an individual must inherit two copies of the defective gene to manifest the disease, while carriers with one copy of the mutated gene can still produce enough functional protein to avoid symptoms.

User Ajinkya Patil
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