Publications by authors named "H M Mitchison"
Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell. Thus far, disease causing variants in over 50 genes have been identified and these variants explain around 70% of all known cases.
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- 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
Article Synopsis
- Tubulin is a key component of the cytoskeleton and has various isotypes in animals, but it's unclear how these isotypes influence microtubule structures in different cell types.
- Research on 12 patients with primary ciliary dyskinesia and mouse models uncovered variants in the tubulin isotype that disrupted the formation of centrioles and cilia, impacting microtubule dynamics.
- The study identified different variants causing distinct effects on tubulin interactions, allowing for the classification of patients into three types of ciliopathic diseases, highlighting the unique roles of specific tubulin isotypes in cellular functions.
Primary ciliary dyskinesia (PCD), a disorder of the motile cilia, is now recognised as an underdiagnosed cause of bronchiectasis. Accurate PCD diagnosis comprises clinical assessment, analysis of cilia and the identification of biallelic variants in one of 50 known PCD-related genes, including HYDIN. HYDIN-related PCD is underdiagnosed due to the presence of a pseudogene, HYDIN2, with 98% sequence homology to HYDIN.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD) is a rare, chronic genetic condition with variable features arising from motile cilia dysfunction, including recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. The aim of the study was to understand the experiences of young people with PCD as they transition into adulthood and adult healthcare services. An interpretative phenomenological analytical method was applied.
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