Contribution of genes other than the CFTR gene to disease severity in Cystic Fibrosis
Cystic fibrosis (CF) is a severe genetic disorder caused by one gene: the cystic fibrosis transmembrane regulator gene (CFTR). Inheriting the gene from both parents leads to CF. People with CF experience chronic respiratory infections that cause lung damage and ultimately lead to lung failure and death. Lung damage in CF is not fully understood and cannot be completely explained by the CFTR gene defect. There are considerable differences in the severity and progression of lung disease, for example, among patients with the same mutation in the CF gene. Some may require lung transplantation by their teenage years, while others may not experience severe lung disease until adulthood. Daisy Frangolias is looking specifically at two types of genes: ones that are involved in fighting lung infections, and those that are involved in initiating and controlling the inflammatory response to the bacteria that cause lung infections. Her findings will increase the understanding of the relationship between the CF gene disorder and other genes in defining the long-term progression of CF, and may provide therapeutic targets for reducing lung damage.