Cystic fibrosis (CF) is a hereditary disease linked to a high mortality rate due to lung failure. CF causes a thick mucous production and frequent lung infections due to a defective CFTR gene and its protein product.
In addition, variations in other genes among CF sufferers modify the severity of the disease.
A recent study conducted at the Hospital for Sick Children, Toronto, investigated the gene responsible for making the MBL2 protein and its effects on lung function in individuals with CF.
Researchers found that genetic variations of the MBL2 expression were associated with more severe clinical symptoms of CF.
More than 1,000 CF patients were included in the study. A comparison of the MBL2 levels in their blood found that patients with a MBL2 deficiency were often younger when first infected with the bacteria Pseudomonas aeruginosa, and that their lung function declined more rapidly than patients with normal or high levels of the protein.
Cystic fibrosis affects roughly 30,000 children and adults in the United States, 70,000 worldwide. The authors of this study contend that their findings could serve as a basis for new approaches for treating CF sufferers, including those who are at risk of increased severity of the disease.
