Abstract

Ciliary disorders are complex and enigmatic, and can lead to and complications. Human males who produce spermatozoa with defective flagella may also possess defective cilia. In this the motility and ultrastructure ofnasal cilia/cells and spermatozoa of an infertile Tasmanian male patient were examined in order to elucidate the cause of his infertility. A detailed examination of the variation in cilia and spermatozoa of control subjects was also conducted. The axonemal structure of all nasal samples from control subjects showed a low frequency of abnormalities; however, when present, abnormalities varied between samples. The nasal cells and spermatozoa of the infertile patient were distinct from control samples, both in terms of motility and ultrastructure. The spermatozoa axonemes of the patient displayed the normal 9+2 microtubule ultrastructure; however, the proportion of immotile spermatozoa and ultrastructural abnormalities was higher than in control samples. All of the patient's nasal cilia were functionally immotile and approximately 70% of ciliated cells displayed extensive ciliary fusion; a feature not found in controls and not previously described. Despite having immotile nasal cilia, this patient was healthy with no obvious respiratory ailments. Additionally, the nasal cells of the patient possessed mitochondria with distended membranes, internalised membranous material, cilia with vesicles and internalised axonemes. These features suggest that ciliary deployment and membrane deposition was compromised in the patient.

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