Publications by authors named "J Marthin"
Primary ciliary dyskinesia is a rare genetic disorder characterized by progressive lung disease. is a major pathogen in this disease, known to impact lung function. Previous genotype-phenotype studies have been limited by cross-sectional designs, isolated adult or pediatric populations, small numbers, or short follow-up durations.
View Article and Find Full Text PDFBackground: Primary ciliary dyskinesia is a genetic disorder caused by aberrant motile cilia function that results in defective ciliary airway clearance and subsequently leads to recurrent airway infections and bronchiectasis. We aimed to determine: how many functional multiciliated airway cells are sufficient to maintain ciliary airway clearance?
Methods: To answer this question we exploited the molecular defects of the X-linked recessive primary ciliary dyskinesia variant caused by pathogenic variants in (), characterised by immotile cilia in affected males. We carefully analysed the clinical phenotype and molecular defect (using immunofluorescence and transmission electron microscopy) and performed studies (particle tracking in air-liquid interface cultures) and studies (radiolabelled tracer studies) to assess ciliary clearance of respiratory cells from female individuals with heterozygous and male individuals with hemizygous pathogenic variants.
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects ciliary function, leading to airway clearance issues and sometimes organ positioning defects (laterality defects), with a study conducted across 19 countries to analyze gene defects and their clinical implications.
- The study involved 1236 individuals with a variety of pathogenic DNA variants and found significant geographical differences in PCD genotypes, with varying rates of laterality defects and distinct genetic characteristics linked to different countries.
- Results revealed that individuals with PCD often have lower lung function (measured by forced expiratory volume) and that the presence of certain genetic variants can correlate with more severe clinical outcomes, highlighting the importance of genetic understanding in diagnosing
Background: Consistent use of reliable and clinically appropriate outcome measures is a priority for clinical trials, with clear definitions to allow comparability. We aimed to develop a core outcome set (COS) for pulmonary disease interventions in primary ciliary dyskinesia (PCD).
Methods: A multidisciplinary international PCD expert panel was set up.