Preprint: Burden of rare pathogenic variants suggests disrupted cytoskeletal organisation in the pathogenesis of pulmonary fibrosis
WHY IT MATTERS
If you or a family member has pulmonary fibrosis, this research could eventually help explain your genetic risk and lead to new treatments targeting the cellular structures that are damaged in this disease.
Researchers studied the genes of people with pulmonary fibrosis (a disease where lung tissue becomes scarred and stiff) to find rare genetic changes that might cause the disease. They found that problems in genes related to how cells maintain their structure may play an important role in developing pulmonary fibrosis. This discovery could help doctors better understand why some people develop this serious lung condition.
Burden of rare pathogenic variants suggests disrupted cytoskeletal organisation in the pathogenesis of pulmonary fibrosis Authors: Bhatti, K. et al. Server: bioRxiv Category: genetics Abstract: BackgroundRare genetic variants contribute to pulmonary fibrosis (PF) risk and outcome, with known variants highlighting the importance of impaired telomere maintenance and surfactant biology. However, much of the disrupted genetic architecture of PF remains unexplained. This study aimed to identify genes with rare pathogenic coding variants that represented a burden at the exon level associated with the pathogenesis of PF. MethodsPF case cohorts included the PROFILE study of incident idiopathic pulmonary fibrosis (IPF) and PF-classified participants from the Genomics England 100K (GE100KGP)