Walt H
Schweiz Med Wochenschr. 1984 Oct 20;114(42):1442-50.
Motility of sperm flagella as well as of cilia is mechanically based on the principle of 9 + 2-tubules. It functions essentially by coordinated action between microtubules and the adenosine-triphosphatase dynein and was already present at the beginning of the evolution of the eucaryotes. Experimentally induced mutations in algae have resulted in numerous variations of the flagellar 9 + 2-structure. A mutation of this kind is also found in man, as immotile cilia syndrome (ICS) where anomalies in spermatozoa and in cilia (e.g. of the respiratory tract) are observed. Clinical manifestations of the syndrome have long been known (chronic bronchitis, bronchiectasis, sinusitis and male sterility). In addition, half of the patients exhibit situs inversus viscerum, known as Kartagener's syndrome, a subgroup of ICS. Electron microscopy was used to investigate sperm flagella with reduced motility from 9 patients (one with ICS) with primary infertility. Cilia of the respiratory tract from 7 patients (several with ICS) with chronic bronchial problems were analyzed for motility (using video techniques) and ultrastructure. Reduced motility or immotility of spermatozoa and immotile or dyskinetic cilia were always accompanied by ultrastructural anomalies. In spermatozoa, lack of dynein arms, 9 + 0-configuration and extratubuli were most frequently observed. The fibrous sheath was always asymmetrical. Structural ciliary defects resulted in non-parallel arrangements, electron dense matrix substance, extratubuli and lack of radial spokes. In one case, ciliary microtubuli were found in microvilli. In two patients, cilia as well as spermatozoa were analyzed. In the first, immotile spermatozoa without dynein arms and structurally normal cilia were observed.(ABSTRACT TRUNCATED AT 250 WORDS)
精子鞭毛以及纤毛的运动在机械原理上基于9 + 2微管结构。其基本功能是通过微管与三磷酸腺苷动力蛋白之间的协同作用来实现的,这种结构在真核生物进化初期就已存在。在藻类中通过实验诱导的突变导致了鞭毛9 + 2结构的多种变异。在人类中也发现了这种突变,即不动纤毛综合征(ICS),在精子和纤毛(如呼吸道的纤毛)中观察到异常。该综合征的临床表现早已为人所知(慢性支气管炎、支气管扩张、鼻窦炎和男性不育)。此外,一半的患者表现出内脏转位,即卡塔格内综合征,它是ICS的一个亚组。使用电子显微镜对9例原发性不育患者(其中1例患有ICS)运动能力降低的精子鞭毛进行了研究。对7例患有慢性支气管问题的患者(其中几例患有ICS)的呼吸道纤毛进行了运动能力(使用视频技术)和超微结构分析。精子运动能力降低或不动以及纤毛不动或运动障碍总是伴随着超微结构异常。在精子中,最常观察到动力蛋白臂缺失、9 + 0结构和额外微管。纤维鞘总是不对称的。结构性纤毛缺陷导致排列不平行、电子致密基质物质、额外微管和放射辐条缺失。在1例中,在微绒毛中发现了纤毛微管。对2例患者的纤毛和精子都进行了分析。在第一例中,观察到没有动力蛋白臂的不动精子和结构正常的纤毛。