Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nasal biopsy specimens were obtained from 5 normal subjects and from 7 patients with immotile cilia syndrome. Of the latter, 3 had Kartagener's syndrome, one had Kartagener's forme fruste, and 3 had bronchiectasis and sinusitis. An in vitro motility test was used to assess ciliary movement. Exogenous adenosine triphosphate and adenosine triphosphatase activated the immotile cilia to levels equal to or slightly greater than the spontaneous activity seen in normal subjects. Absence of dynein arms on ciliary peripheral microtubule doublets was a consistent finding in the patients' specimens and is suggested to be the basic defect in this syndrome that is responsible for immotility and absence of mucociliary clearance.
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PMID:Activation of nasal cilia in immotile cilia syndrome. 15 23

Sinusitis was produced in rabbits, after which animals were separated into three groups: allergic sinusitis, induced purulent sinusitis, and spontaneous purulent sinusitis. Mucosal specimens were taken from these animals and normal controls. Na/K-ATPase was localized cytochemically and its activity studied in order to define the energy metabolism of secretion. The Na/K-ATPase reaction was unable to be clearly distinguished in either the allergic sinusitis specimens or the normal mucosa. In both purulent sinusitis groups, an intensive reaction was observed in the subepithelial glands and a weak reaction was found in the goblet cells. The Na/K-ATPase activity in the purulent sinusitis groups was significantly higher than that in the normal control group. The increased Na/K-ATPase activity may be an affect of hyperactivity of the secretory cells.
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PMID:Na/K-ATPase in rabbit paranasal sinus mucosa during induced sinusitis. 217 95

Thirty patients with functional and/or morphological abnormalities of respiratory tract cilia were identified. The diagnosis of primary ciliary dyskinesia was based on observed abnormalities of ciliary ultrastructure or beating in vitro (beat pattern, beat frequency or percentage of motile cilia). Beat frequency and motility indices approached the normal range in some cases and suggests that the term 'immotile cilia syndrome' is not appropriate. Morphological abnormalities were most commonly due to deficiency of dynein arms, affecting the outer arms (n = 7), inner arms (n = 3) or both (n = 10). Examples of radial spoke and microtubular defects were also identified but in seven subjects ciliary ultrastructure was normal. In six patients paired samples of nasal and bronchial cilia were obtained and showed consistent abnormalities of motility and ultrastructure. Adenosine triphosphate and adenosine triphosphatase did not restore in vitro motility when added to dynein deficient cilia. The clinical picture was of life-long sinusitis and recurrent bronchial infection but the spectrum was broader than that encompassed by Kartagener's triad (dextrocardia, sinusitis and bronchiectasis). Fourteen patients had normal cardiac situs and definite or highly suggestive evidence of bronchiectasis was present in only 17 patients. Radiological evidence of sinusitis was common but absence of frontal sinuses was not universal. Chronic serous otitis media was a frequent finding but deafness was rarely profound. Fertility problems were common but were not universal in female subjects. Lung function testing revealed evidence of airflow obstruction but this was mild in most cases.
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PMID:Primary ciliary dyskinesia: cytological and clinical features. 297 7

"Triad" asthmatics often have sinus disease, nasal polyps, and obstructive airways disease. This presentation is reminiscent of the symptoms of persons afflicted with various forms of ciliary dyskinesia. Therefore, we examined tissues from seven "triad" asthmatic patients for ciliary structural or functional abnormalities. Transmission and scanning electron microscopy revealed no specific abnormalities. Cultures of nasal epithelia were maintained for up to 20 weeks. They showed normal ciliary activity which was not influenced by perfusing the tissue with medium containing aspirin. In contrast, control tissue from a patient with situs inversus and sinusitis showed the expected structural and functional ciliary abnormalities. In culture, the ciliary function of tissue from this patient could be partly restored by perfusion with ATP or ATPase.
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PMID:Ultrastructural and functional studies of cilia from patients with asthma, aspirin intolerance, and nasal polyps. 621 70

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)
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PMID:[Sperm flagella and cilia with pathologic motility and ultrastructure]. 650 61

RPGR gene encodes retinitis pigmentosa guanosine triphosphatase regulator protein, mutations of which cause 70% of the X-linked retinitis pigmentosa (XLRP) cases. Rarely, RPGR mutations can also cause primary ciliary dyskinesia (PCD), a multisystem disorder characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis, and male subfertility. Two patients with PCD_RP and their relatives were analyzed using DNA sequencing, transmission electron microscopy (TEM), immunofluorescence (IF), photometry, and high-speed videomicroscopy. The Polish patient carried a previously known c.154G>A substitution (p.Gly52Arg) in exon 2 (known to affect splicing); the mutation was co-segregating with the XLRP symptoms in his family. The c.824 G>T mutation (p. Gly275Val) in the Australian patient was a de novo mutation. In both patients, TEM and IF did not reveal any changes in the respiratory cilia structure. However, following ciliogenesis in vitro, in contrast to the ciliary beat frequency, the ciliary beat coordination in the spheroids from the Polish proband and his relatives carrying the c.154G>A mutation was reduced. Analysis of the ciliary alignment indicated severely disturbed orientation of cilia. Therefore, we confirm that defects in the RPGR protein may contribute to syndromic PCD. Lack of ultrastructural defects in respiratory cilia of the probands, the reduced ciliary orientation and the decreased coordination of the ciliary bundles observed in the Polish patient suggested that the RPGR protein may play a role in the establishment of the proper respiratory cilia orientation.
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PMID:RPGR mutations might cause reduced orientation of respiratory cilia. 2288 88

Non-typeable Haemophilus influenzae (NTHI) is a common commensal bacterium that resides in the human upper respiratory tract of healthy individuals. NTHI is also a known causative agent of multiple diseases including sinusitis, otitis media, as well as exacerbates disease severity of patients with cystic fibrosis and chronic obstructive pulmonary disease. We have previously shown that the Sap transporter mediates resistance to host antimicrobial peptides (AMPs) and import of the iron-containing compound heme. Here, we analyzed the contribution of the Sap structural ATPase protein, SapF, in these essential functions. In contrast to SapD, SapF was dispensable for NTHI survival when exposed to AMPs in vitro. SapF was responsible for heme utilization and recovery of depleted internal heme-iron stores. Further, a loss of SapF resulted in morphological plasticity and enhanced community development and biofilm architecture, suggesting the potential role of heme-iron availability in coordinating the complexity of NTHI biofilm architecture. SapF was required for colonization of the nasopharynx and acute infection of the middle ear, as SapF deficiency correlated with a statistically significant decrease in NTHI persistence in vivo. These data suggest that SapF is required for proper heme utilization which directly impacts NTHI survival. Thus, these studies further support a role for the Sap complex in the transport of multiple substrates and further defines substrate specificity for the two ATPase subunits. Given the multiple essential functions provided by the Sap transporter, this complex could prove to be an effective therapeutic target for the treatment of NTHI diseases.
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PMID:SapF-mediated heme-iron utilization enhances persistence and coordinates biofilm architecture of Haemophilus. 2291 33