Scientists at Washington University School of Medicine in St. Louis have identified why certain individuals with the uncommon genetic disorder known as primary ciliary dyskinesia experience more severe lung complications compared to others afflicted with the same condition. The finding, announced in Science Translational Medicine, proposes that gene therapy aimed at reinstating a missing protein complex could aid in treating the ailment. Patients suffering from this disorder who received treatment at WashU Medicine were involved in this investigation.
Primary ciliary dyskinesia is an uncommon genetic condition that results in abnormalities in delicate hair-like structures known as cilia, which line the respiratory tract and various organs. This disorder can lead to respiratory issues, infertility, and complications regarding the left-right orientation of organs in the body, such as a heart positioned on the right side of the chest rather than the left. Over 50 genes have been related to this disorder. For reasons that remain unclear, variations in two genes that code for proteins called CCDC39 and CCDC40 lead to more intense lung disease.
A research team, spearheaded by Susan K. Dutcher, PhD, a genetics professor, and Steven L. Brody, MD, the Dorothy R. and Hubert C. Moog Professor of Pulmonary Medicine, discovered that these proteins unite to constitute a singular scaffold supporting the formation of a complex network of ciliary proteins. In addition to an impaired ciliary network, the absence of this structure causes some cells that should possess cilia to instead generate mucus, potentially explaining the heightened airway difficulties observed.
The researchers demonstrated that they could rectify these anomalies in airway cells by introducing a normal version of the CCDC39 gene through a viral delivery mechanism, showcasing that a gene therapy strategy might benefit these patients in the future.
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