Biomaterial Database

Kartagener's syndrome with motile cilia and immotile spermatozoa: axonemal ultrastructure and function. 1986

L J Wilton, and H Teichtahl, and P D Temple-Smith, and D M De Kretser

A 35-yr-old infertile man with chronic sinobronchial disease and dextrocardia (Kartagener's syndrome) was found to have immotile sperm and motile nasal cilia in vitro. Ciliary beat frequency in vitro was normal, but in vivo nasal mucociliary clearance was markedly prolonged. Quantitative electron microscopy demonstrated a severe reduction in spermatozoal outer and inner dynein arms compared with normal (p less than 0.001) but normal numbers of outer doublets, central microtubules, and radial spokes were seen. In 2 samples of nasal cilia collected 14 months apart, the number of inner dynein arms was significantly reduced from normal (p less than 0.001), but normal numbers of radial spokes and microtubule structures were seen. Ciliary outer dynein arms were slightly reduced in 1 specimen (p less than 0.001) but were normal in the other. It is suggested that the reduction in the number of ciliary inner dynein arms does not affect ciliary motility in vitro but that, under the increased load of mucus in vivo, this defect prevents the cilia from functioning normally. The difference in axonemal ultrastructure between cilia and spermatozoa from the same patient further suggests a separate genetic control of their structural components.

UI	MeSH Term	Description	Entries
D007619	Kartagener Syndrome	An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.	Kartagener Triad,Ciliary Dyskinesia, Primary, 1,Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus,Dextrocardia, Bronchiectasis, and Sinusitis,Kartagener's Syndrome,Kartagener's Triad,Polynesian Bronchiectasis,Siewert Syndrome,Bronchiectasis, Polynesian,Kartageners Syndrome,Kartageners Triad,Polynesian Bronchiectases,Syndrome, Kartagener,Syndrome, Kartagener's,Syndrome, Siewert
D008297	Male		Males
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D009297	Nasal Mucosa	The mucous lining of the NASAL CAVITY, including lining of the nostril (vestibule) and the OLFACTORY MUCOSA. Nasal mucosa consists of ciliated cells, GOBLET CELLS, brush cells, small granule cells, basal cells (STEM CELLS) and glands containing both mucous and serous cells.	Nasal Epithelium,Schneiderian Membrane,Epithelium, Nasal,Membrane, Schneiderian,Mucosa, Nasal
D002923	Cilia	Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)	Motile Cilia,Motile Cilium,Nodal Cilia,Nodal Cilium,Primary Cilia,Primary Cilium,Cilium,Cilia, Motile,Cilia, Nodal,Cilia, Primary,Cilium, Motile,Cilium, Nodal,Cilium, Primary
D002925	Ciliary Motility Disorders	Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.	Ciliary Dyskinesia,Ciliary Dyskinesia, Primary,Immotile Cilia Syndrome,Primary Ciliary Dyskinesia,Ciliary Dyskinesias,Ciliary Motility Disorder,Disorder, Ciliary Motility,Dyskinesia, Ciliary,Dyskinesia, Primary Ciliary,Immotile Cilia Syndromes
D004398	Dyneins	A family of multi-subunit cytoskeletal motor proteins that use the energy of ATP hydrolysis, generated by a ring of AAA ATPASES in the dynein heavy chain, to power a variety of cellular functions. Dyneins fall into two major classes based upon structural and functional criteria.	ATPase, Dynein,Adenosinetriphosphatase, Dynein,Dynein,Dynein ATPase,Dynein Adenosinetriphosphatase,Dynein Heavy Chain,Dynein Intermediate Chain,Dynein Light Chain,Dynein Light Intermediate Chain,Adenosine Triphosphatase, Dynein,Dynein Heavy Chains,Dynein Intermediate Chains,Dynein Light Chains,Dynein Light Intermediate Chains,Chain, Dynein Heavy,Chain, Dynein Intermediate,Chain, Dynein Light,Chains, Dynein Heavy,Chains, Dynein Intermediate,Chains, Dynein Light,Dynein Adenosine Triphosphatase,Heavy Chain, Dynein,Heavy Chains, Dynein,Intermediate Chain, Dynein,Intermediate Chains, Dynein,Light Chain, Dynein,Light Chains, Dynein
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D013081	Sperm Motility	Movement characteristics of SPERMATOZOA in a fresh specimen. It is measured as the percentage of sperms that are moving, and as the percentage of sperms with productive flagellar motion such as rapid, linear, and forward progression.	Motilities, Sperm,Motility, Sperm,Sperm Motilities