A HISTOLOGICAL APPROACH TO A PATIENT WITH PRIMARY CILIARY DYSKINESIA: CILIUM PREASSEMBLY PROTEINS IN THE PRESENCE OF THE OUTER DYNEIN ARM DEFECT

Erdem İ. L., Daniş A., Nayır Büyükşahin H., Emiralioğlu Ordukaya N., Kaya Z. B., Özçelik H. U., ...Daha Fazla

1sr International Congress of Histology and Embryology, Ankara, Türkiye, 26 - 28 Mayıs 2022, ss.119

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: Ankara
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.119
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Introduction: Primary ciliary dyskinesia (PCD) is a rare and autosomal recessive 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 (9+2), are observed in individuals with PCD due to their genetic heterogeneity. After being synthesized in the ribosomes, the outer dynein motor proteins (ODA) are folded with chaperones in the endoplasmic reticulum (ER) and their production is completed in the cytoplasm with preassembly proteins. Zinc finger MYND domain-containing protein 10 (ZMYND10); is the protein that is responsible for the pre-production of ODA and ciliary structure elements.

Purpose: To demonstrate that disease in a PCD patient with ODA defect may be due to the defect in cilium preassembly factors.

Material and method: A patient, aged 19 female, who were genetically pre-diagnosed with PCD (ODA defect) in Turkey, was included in this study. The physical examination, high speed video microscoby (HSVM) findings and nasal swab samples were obtained from Hacettepe University, Department of Pediatric Pulmonology. The nasal swab samples were double-labeled with DNAH5-Acetylated beta tubulin and RSPH9-ZMYND10 antibodies and evaluated under fluorescent microscope. Fluorescence measurements were evaluated from at least 3 micrographs of the patient and control individual. Measurements were calculated according to the corrected total cell fluorescence (CTCF) formula. Statistical significance was checked according to the averages in the Graphpad Prism program.

Results: Acetylated beta tubulin and DNAH5 immunoflourescence labelings were performed. The DNAH5 and acetylated beta tubulin were positive along the cilium of the control. The acetylated beta tubulin labeling was positive and DNAH5 labeling was negative for the patient’s sample (Figure 1).

Conclusion: The DNAH5 mutation of the patient might be associated with ZMYND10 defect. As a result, using histological approaches to identify the cilium preassembly protein may aid in the study of the mechanisms behind the ODA protein deficiency