What Causes Cystic Fibrosis?
Cystic Fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, which is located on chromosome 7. This gene is responsible for the production of a protein that regulates the movement of salt and water in and out of cells. When mutations occur in the CFTR gene, the resulting protein is either dysfunctional or absent. This leads to the production of thick, sticky mucus in various organs, primarily the lungs and digestive system.
Genetic Inheritance
CF is inherited in an autosomal recessive manner, meaning that a child must receive two copies of the faulty gene—one from each parent—to develop the disease. Carriers, who possess only one copy of the mutated gene, typically do not show symptoms but can pass the gene to their offspring.
Common Mutations
There are over 2,000 known mutations of the CFTR gene. The most prevalent mutation is called F508del, which accounts for about 70% of all cystic fibrosis cases. Other mutations can lead to varying severities of the disease.
Epidemiology
Cystic Fibrosis is more common among individuals of Northern European descent. In contrast, the disorder is less frequent in populations of African and Asian descent. Early detection through newborn screening has improved management and outcomes for many affected individuals.
Conclusion
Understanding the genetic basis of cystic fibrosis is crucial for diagnosis, treatment, and genetic counseling. Advances in CFTR modulator therapies now provide more effective options for managing the disease, significantly improving the quality of life for those affected.