Cystic Fibrosis: Amorsolo Analysis PDF

CYSTIC FIBROSIS AGITAN, RALPH JERIX BAGUE, GLAUD WYNE MCJHEZLLER  SHORT BACKGROUND Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems due to the buildup of thick and sticky mucus. This condition is most commonly caused by mutations in...

CYSTIC FIBROSIS AGITAN, RALPH JERIX BAGUE, GLAUD WYNE MCJHEZLLER  SHORT BACKGROUND Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems due to the buildup of thick and sticky mucus. This condition is most commonly caused by mutations in the CFTR gene, which impairs the regulation of salt and water movement in and out of cells, leading to mucus buildup. AFFECTED GENE/CHROMOSOME The gene responsible for cystic fibrosis is the CFTR gene, located on chromosome 7. Mutations in this gene, particularly the ΔF508 mutation, disrupt the function of the CFTR protein, which is crucial for maintaining fluid balance in various organs. Chromosome Gene Mutation  EFFECTS (PHYSICALLY) Physically, cystic fibrosis causes chronic respiratory infections, lung damage, difficulty breathing, and excessive mucus production. It also affects the digestive system by blocking pancreatic enzymes needed for food digestion, leading to malnutrition and poor growth. In some cases, it can impact reproductive organs, leading to infertility in males.  DATA Cystic fibrosis is one of the most common genetic disorders among people of European descent, with an incidence rate of about 1 in 2,500-3,500 live births in the United States. Life expectancy has improved over the years, with many individuals now living into their 40s or 50s, though disease severity can vary widely.  NEW DISCOVERIES ANSWER KEY CFTR MODULATORS Gene Therapy New drugs like Research on What are some recent Trikafta improve gene therapy discoveries related to CFTR protein aims to correct cystic fibrosis? function, boosting the CFTR lung health and mutation, reducing potentially symptoms. offering a cure.  REFERENCES Cystic Fibrosis Foundation. "What Is Cystic Fibrosis?" Cystic Fibrosis Foundation, 2024, www.cff.org/intro- cf/what-cystic-fibrosis. National Institutes of Health (NIH). "Cystic Fibrosis." Genetics Home Reference, U.S. National Library of Medicine, 6 Oct. 2024, medlineplus.gov/genetics/condition/cystic -fibrosis/. Cutting, Garry R. "Cystic Fibrosis Genetics: From Molecular Understanding to Clinical Application." Nature Reviews Genetics, vol. 16, no. 1, Jan. 2015, pp. 45-56. 4o