Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.

摘要: Primary ciliary dyskinesia is an autosomal recessive disorder affecting the motility of cilia. There are a range ultrastructural defects that lead to associated clinical symptoms including ineffective mucus clearance, reduced lung function, infertility, and left-right isomerism. Mutations in radial spoke head proteins known cause primary dyskinesia. Ultrastructually these identified by portion cilia lacking central pair transposed outer microtubular doublets. We have repeatedly observed intermittent loss patients with transposition defect. To further understand changes mutations we employ electron tomography, high resolution microscope technique, elucidate three dimensions arrangements caused mutation RSPH4A gene. thereby provide explanation structures conventional microscopy studies. demonstrate can be present within cilium. In some cilia, rotates at base axoneme. propose it this rotation gives rise appearance when viewed under microscopy. discuss potential causes consequences findings. © 2014 Wiley Periodicals, Inc.