Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defect.

ABSTRACT:

Introduction

Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia across various organs, leading to recurrent respiratory infections, subfertility, and laterality defects. While several diagnostic tools exist-such as high-speed video microscopy, immunofluorescence staining, electron microscopy, and genetic screening-the relationship between different pathogenic variants within a single PCD gene and their effects on ciliary composition, structure, and clinical phenotype remains poorly understood.

Methods

To investigate this, we analyzed cilia from PCD patients with different mutations in axonemal dynein heavy chain dnah5 using mass spectrometry and cryo-electron tomography. These methods allowed us to examine both the protein composition and ul

SUBMITTER: de Ceuninck van Capelle C 

PROVIDER: S-EPMC12310455 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature