Scientists at the University of Leicester have made a significant breakthrough in the field of rare lung diseases by identifying a new gene associated with primary ciliary dyskinesia (PCD). This discovery, part of an extensive international research effort, sheds light on the genetic mechanisms underlying PCD, a condition that can impact various organs in the body.

PCD is a rare inherited disorder that can result in inflammation of the airways and recurrent infections in the lungs, sinuses, nose, and ears. The newly identified gene, tubulin (TUBB4B), has been linked to ciliary dysfunction, a key feature of PCD. The research findings have been recently published in the journal Science.

Professor Pleasantine Mill, leading the study at the MRC Human Genetics Unit at the University of Edinburgh, highlighted the collaborative nature of the research, involving patients, clinicians, and researchers worldwide. The study revealed different mutations in the TUBB4B gene in PCD patients, showing diverse clinical manifestations such as vision impairment and kidney issues.

Functional studies unveiled the impact of these mutations on tubulin protein function, leading to distinct clinical outcomes in patients. Notably, the research demonstrated the ‘dominant negative’ effect of one mutant copy of TUBB4B, disrupting cilia formation and microtubule function.

Dr. Robert Hirst, a Principal Scientist at the Centre for PCD Diagnosis and Research at the University of Leicester, conducted advanced imaging analyses on airway samples from PCD patients. The findings from this research have the potential to enhance rapid diagnostic techniques for individuals affected by this form of PCD and inform new therapeutic approaches.

The Centre for PCD Diagnosis at the University of Leicester collaborates closely with the National Institute for Health and Care Research (NIHR) Leicester Biomedical Research Centre (BRC). Dr. Hirst and his team have diagnosed numerous PCD cases, providing crucial insights for clinical management within the NHS.

This groundbreaking study not only improves the diagnosis and genetic counseling for PCD patients and their families but also paves the way for innovative therapeutic strategies tailored to these patients’ specific needs. The identification of the TUBB4B gene’s role in PCD expands our understanding of tubulinopathies beyond traditional neurological conditions, offering new avenues for research and treatment in lung diseases.