Cystic Fibrosis Is A Genetic Disease Caused By Mutati 241507

Cystic Fibrosis Is Genetic Disease Caused By Mutations In the Cftr Gen

Cystic fibrosis (CF) is a hereditary condition caused by mutations in the CFTR gene, which encodes the cystic fibrosis transmembrane conductance regulator protein. Normally, gene expression begins with transcription, where the CFTR gene's DNA sequence is transcribed into messenger RNA (mRNA). This mRNA is then translated into the CFTR protein in the ribosomes, a process involving multiple steps including amino acid assembly and folding. In CF, mutations such as ΔF508 cause improper folding of the CFTR protein, leading to its degradation before reaching the cell membrane. Consequently, defective or absent CFTR channels impair chloride ion transport across epithelial cell membranes, resulting in thick mucus secretion, characteristic of CF (Rowe, et al., 2016). The abnormal protein production disrupts fluid regulation in sweat glands, lungs, and the digestive system, causing the disease phenotype. Proper protein folding and trafficking are essential for CFTR function, and mutations interfere with these processes, leading to the accumulation of dysfunctional proteins that do not reach the cell surface, culminating in the disease symptoms. Understanding these molecular mechanisms aids in developing targeted therapies such as CFTR modulators to correct folding and trafficking defects (Legraverend & Couteron, 2019). Overall, mutations in the CFTR gene directly result in the synthesis of malfunctioning or absent CFTR proteins, underpinning the multisystem pathology of cystic fibrosis.

Paper For Above instruction

Cystic fibrosis (CF) is a hereditary condition caused by mutations in the CFTR gene, which encodes the cystic fibrosis transmembrane conductance regulator protein. Normally, gene expression begins with transcription, where the CFTR gene's DNA sequence is transcribed into messenger RNA (mRNA). This mRNA is then translated into the CFTR protein in the ribosomes, a process involving multiple steps including amino acid assembly and folding. In CF, mutations such as ΔF508 cause improper folding of the CFTR protein, leading to its degradation before reaching the cell membrane. Consequently, defective or absent CFTR channels impair chloride ion transport across epithelial cell membranes, resulting in thick mucus secretion, characteristic of CF (Rowe, et al., 2016). The abnormal protein production disrupts fluid regulation in sweat glands, lungs, and the digestive system, causing the disease phenotype. Proper protein folding and trafficking are essential for CFTR function, and mutations interfere with these processes, leading to the accumulation of dysfunctional proteins that do not reach the cell surface, culminating in the disease symptoms. Understanding these molecular mechanisms aids in developing targeted therapies such as CFTR modulators to correct folding and trafficking defects (Legraverend & Couteron, 2019). Overall, mutations in the CFTR gene directly result in the synthesis of malfunctioning or absent CFTR proteins, underpinning the multisystem pathology of cystic fibrosis.

References

  • Legraverend, C., & Couteron, F. (2019). CFTR modulation as a promising therapeutic approach for cystic fibrosis. Molecular Therapy, 27(7), 1233-1245.
  • Rowe, S. M., Miller, S., & Sorscher, E. J. (2016). Cystic fibrosis. The New England Journal of Medicine, 352(19), 1992-2001.
  • Cheng, S. H., Gregory, R. J., Marshall, J., et al. (1990). Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell, 63(4), 827-834.
  • Zabner, J., & Welsh, M. J. (1993). Trafficking, processing, and membrane targeting of CFTR. American Journal of Physiology-Lung Cellular and Molecular Physiology, 264(5), L469-L477.
  • Bogert, C. V., & Kopp, B. T. (2018). Advances in cystic fibrosis therapies targeting protein folding and trafficking. Human Molecular Genetics, 27(R2), R83-R91.
  • Pedersen, M. B., et al. (2019). Molecular basis of CFTR folding and function: implications for cystic fibrosis therapies. Current Opinion in Pharmacology, 47, 137-147.
  • Li, D., et al. (2020). The role of CFTR in epithelial ion transport and implications for cystic fibrosis. International Journal of Molecular Sciences, 21(15), 5344.
  • Jourdan, L., & Sorscher, E. J. (2021). Pharmacological correction of CFTR trafficking defects in cystic fibrosis. Journal of Cystic Fibrosis, 20(5), 679-686.
  • O'Sullivan, B. P., & Freedman, S. D. (2009). Cystic fibrosis. The Lancet, 373(9678), 1891-1904.
  • Clancy, J. P., et al. (2012). CFTR modulators: advances and ongoing challenges. European Respiratory Journal, 39(6), 1388-1390.

Related Assignments