Primer Siliyer Diskinezi (PCD) Hastalarında Dış Dynein Kolu (ODA) Defektleri ile Silyum Ön Yapım Proteinlerinin İlişkisinin Histolojik Olarak Araştırılması

Abstract

Histological investigation of the relationship between external dynein arm (ODA) defects and cilium preforming proteins in primary ciliary dyskinesia (PCD) patients, Hacettepe University Faculty of Medicine, Histology and Embryology Specialization Thesis, Ankara, 2022. Primary ciliary dyskinesia (PCD) is rare and autosomal recessive, a transmissible disease characterized by sinopulmonary infections and caused by a defect in the motile cilium/flagellum. Defects of the structural proteins contained in the cilium, which has a microtubule arrangement in the axoneme structure, are observed due to the genetic heterogeneity of individuals with PCD. Zinc finger MYND domain-containing protein 10 (ZMYND10); It is the protein that is responsible for the pre-production of outer dynein arm (ODA) and ciliary structure elements. GRP78 function is to work as a molecular chaperone. Eight patients aged 14-23 who had clinically and genetically prediagnosed PCD (ODA defect) in Hacettepe University Faculty of Medicine, Department of Pediatric Chest Diseases were included in this study. Nasal swab samples of the patients were double-labeled with DNAH5-acetylated beta tubulin, RSPH9-ZMYND10 and RSPH9-GRP78 antibodies and evaluated under fluorescent microscope. In 75% of patients with DNAH5 mutations in immunofluorescence markings; No fluorescent labeling of DNAH5 and ZMYND10 was observed. There was a significant difference between the mean values of DNAH5 and ZMYND10 corrected total cell fluorescence (CTCF) measurements of control and patients. Fluorescent labeling of GRP78 was not observed in 63% of the patients, and a significant difference was found compared to the control. As a result of these findings, patients with ODA defect with different mutations in the same DNAH5 gene; it has been shown qualitatively that it has a relationship with ZMYND10, which is involved in cilium preconstruction, and GRP78, which is a chaperone protein.