Researchers from Hong Kong, Chengdu, Beijing and Tokyo recently reported a functional link between diabetes and cystic fibrosis.
Cystic fibrosis occurs when mutations in the CFTR gene hamper the function of the Cystic Fibrosis transmembrane conductance regulator. This leads to a “tough mucus” secretion in the lungs, and its most acute symptoms are therefore shortness of breath. Indigestion is also a serious symptom, as organs in and around the gastrointestinal tract are affected as well. Without proper management, the respiratory and metabolic consequences of this disease are fatal at young age.
Despite the high frequency of diabetes in adult cystic fibrosis patients, the relationship between the two diseases is still hardly understood. Now, a consortium of Chinese/Japanese institutes has shown that the conductance regulator also regulates glucose-dependent electrical signaling in insulin-producing Beta cells. In other words, defects in the gene that lead to problems in mucus secretion also affect insulin secretion. As most Cystic Fibrosis patients develop insulin deficiency (belonging to the Type I Diabetes category), this finding indeed resolved an important missing link.
Whether the new insights also lead to new treatment options is not clear yet. The investigators have been able to focus at one specific gene mutant. Extrapolating their findings to known >1900 mutations in the Cystic Fibrosis transmembrane conductance regulator gene in humans is a daunting task. Nevertheless, in their mice model, they have not witnessed a destruction of pancreatic islets, where the Beta cells are located that produce insulin. If in patients, insulin secretion would also be decreased before islet are destroyed, timely anticipation could potentially provide leads to effective non-invasive treatment options.
A summary of the paper has been published here.
