The effects of low levels of MBL2 was even more pronounced in patients with overexpresed TGF-beta-1, according to research in JCI.
Scientists found that genetic variations that modify mannose-binding lectin 2 (MBL2) expression are associated with more severe clinical symptoms of cystic fibrosis (CF).
Although it is known that mutations in the CFTR gene cause cystic fibrosis, variations in other genes modify the severity of the disease. For example, the gene responsible for making the MBL2 protein has previously been suggested to modify lung function in individuals with CF.
In the current study, the researchers compared levels of MBL2 in the blood of more than 1,000 CF patients. They found that patients deficient in MBL2 had early onset of the disease and that their lung function declined more rapidly than patients with normal or high levels of the protein. These associations between MBL2 and CF severity were even more pronounced in patients that overproduced the protein TGF-beta-1.
The research was conducted by investigators at the Hospital for Sick Children, University of British Columbia, University of Toronto, and de Recherche Centre Hospitalier de l’Université de Montréal. The study was published in the February 21 edition of the Journal of Clinical Investigation.