- Klíčová slova
- protein DISC1,
- MeSH
- F-Box a WD repetice obsahující protein 7 MeSH
- lidé MeSH
- proteiny nervové tkáně MeSH
- proteolýza * MeSH
- schizofrenie * farmakoterapie MeSH
- Check Tag
- lidé MeSH
Worster-Droughtův syndrom (WDS) je mírná perisylvijská forma dětské mozkové obrny. Ačkoli příznaky lze pozorovat již od prvního roku života, diagnóza WDS bývá většinou stanovena až v mnohem pozdějším věku. Přitom syndrom v populaci není vzácný a diagnostika není obtížná. Mezioborová skupina si dala za cíl přiblížit tuto problematiku naší odborné i laické veřejnosti.
Worster-Drought syndrome (WDS) is a mild form of cerebral palsy. Although the symptoms can be seen from the first year of life, the WDS is usually diagnosed in a much later age even the syndrome is not rare in the population and even the diagnosis is not difficult to be determined. An interdisciplinary group has been set to bring this issue to our experts and to our general public.
- Klíčová slova
- pseudobulbární, kvadruparéza,
- MeSH
- dítě MeSH
- epilepsie etiologie MeSH
- financování organizované MeSH
- kognitivní poruchy etiologie MeSH
- lidé MeSH
- mozková obrna komplikace MeSH
- polymikrogyrie MeSH
- poruchy polykání etiologie komplikace terapie MeSH
- poruchy řeči etiologie terapie MeSH
- pseudobulbární obrna diagnóza komplikace MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
BACKGROUND: Rb(a), Tr(a), and Wd(a) are three low-incidence blood group antigens that have not been assigned to a particular structure of the red cell membrane. Recent genetic and serologic data suggested erythroid band 3 as a possible carrier of these three antigens. STUDY DESIGN AND METHODS: Ten band 3 gene exons that encode the membrane domain of band 3 were screened for single strand conformation polymorphism (SSCP). Exons displaying SSCP were cloned and sequenced, and the presence of the mutations was verified by restriction digestion. RESULTS: Substitutions 548 Pro-->Leu, 551 Lys-->Asn, and 557 Val-->Met, all located in the third ectoplasmic loop of band 3, were detected in the subjects with Rb(a+), Tr(a+), and Wd(a+) red cells, respectively. The presence of the Rb(a) and Wd(a) mutations was confirmed in additional carriers of these blood group antigens. Chymotryptic cleavage at Tyr 553 and Tyr 555 abolished the agglutinability of Tr(a+) and Wd(a+) cells with the corresponding antisera, further demonstrating that the epitopes are located in the third ectoplasmic loop of band 3. Similar quantities of mRNA corresponding of the two band 3 alleles, a normal pattern of red cell membrane proteins, and normal DIDS (4,4'-diisothiocyanatostilbene-2,2'-disulphonic acid, disodium salt)-inhibitable sulfate flux were detected, which suggests that the mutations do not affect band 3 mRNA stability or band 3 protein expression and transport function. CONCLUSION: Wd(a) and Rb(a), and tentatively Tr(a), can be assigned to the Diego blood group system.
- MeSH
- antigeny krevních skupin * imunologie MeSH
- chymotrypsin metabolismus MeSH
- DNA krev MeSH
- epitopy analýza MeSH
- erytrocyty - protein 1 vyměňující anionty * genetika imunologie imunologie MeSH
- erytrocyty chemie metabolismus ultrastruktura MeSH
- isoantigeny * analýza MeSH
- lidé MeSH
- messenger RNA genetika MeSH
- mutace MeSH
- polymerázová řetězová reakce MeSH
- polymorfismus konformace jednovláknové DNA MeSH
- retikulocyty chemie MeSH
- RNA krev MeSH
- sekvenční analýza DNA MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Research Support, U.S. Gov't, P.H.S. MeSH
The PkwA protein of the thermophilic actinomycete Thermomonospora curvata has already been reported as the first instance of a WD-40 module-containing protein of prokaryotic origin. This protein is composed of an N-terminal eukaryotic-type protein kinase domain and of seven C-terminal WD-40 repeats. PkwA is a peripheral membrane protein that is linked to the early exponential growth phase of the bacterium. Its intracellular concentrations are extremely low. We have shown that the protein forms high molecular weight complexes and is localized mainly in the tips of the young Thermomonospora vegetative hyphae.
- MeSH
- Actinomycetales cytologie metabolismus růst a vývoj MeSH
- aminokyselinové motivy MeSH
- bakteriální proteiny analýza fyziologie chemie MeSH
- financování organizované MeSH
- hyfy chemie MeSH
- membránové proteiny analýza fyziologie chemie MeSH
- protein-serin-threoninkinasy analýza fyziologie chemie MeSH
- Streptomyces coelicolor fyziologie metabolismus MeSH
The genome of Streptomyces coelicolor encodes six potential WD-40 genes. Two of them, the wdpB (SCO5953) and the wdpC (SCO4422) genes, were studied to determine their function. Deletion of the wdpB gene resulted in a considerable decrease of aerial hyphae formation, leading to a conditionally bald phenotype, and reduced undecylprodigiosin production. In addition, the aerial hyphae of the ΔwdpB mutant strain were unusually branched and showed the signs of irregular septation and precocious lysis. Disruption of wdpC resulted in the reduction of undecylprodigiosin and delayed actinorhodin production. The ΔwdpC mutant strain showed precocious lysis of hyphae and delayed sporulation without typical curling of aerial hyphae in the early sporulation stage. The whole-genome transcriptome analysis revealed that deletion of wdpB affects the expression of genes involved in aerial hyphae differentiation, sporulation and secondary metabolites production. Deletion of wdpC caused downregulation of several gene clusters encoding secondary metabolites. Both the wdp genes seem to possess transcriptional autoregulatory function. Overexpression and genetic complementation studies confirmed the observed phenotype of both mutants. The results obtained suggest that both genes studied have a pleiotropic effect on physiological and morphological differentiation.
- MeSH
- bakteriální geny MeSH
- bakteriální proteiny genetika metabolismus MeSH
- delece genu MeSH
- genetická transkripce MeSH
- multigenová rodina MeSH
- regulace genové exprese u bakterií MeSH
- repetitivní sekvence aminokyselin * MeSH
- sekundární metabolismus MeSH
- stanovení celkové genové exprese MeSH
- Streptomyces coelicolor genetika růst a vývoj metabolismus MeSH
- transkriptom MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Long non-coding RNAs (lncRNAs) are crucial in chronic liver diseases, but the specific molecular mechanism of lncRNAs in alcoholic fatty liver (AFL) remains unclear. In this study, we investigated the in-depth regulatory mechanism of mTOR affected by AIRN non-protein coding RNA (lncRNA-AIRN) in the development of AFL. LncRNA-AIRN was highly expressed in the liver tissues of AFL C57BL/6mice and oleic acid+alcohol (O+A)treated AML-12cells by using quantitative real-timePCR. RNA pull-down and RNA immunoprecipitation experiments demonstrated that there was an interaction between lncRNA-AIRN and mTOR, and that interference with lncRNA-AIRN could promote the mTOR protein level. Results ofcycloheximide-chase assay showed that the proteinlevel of mTOR was decreased with the treatment time after the knockdown of lncRNA-AIRN. Furthermore, the knockdown of lncRNA-AIRN reducedmTOR protein level by promoting the E3 ubiquitin ligase FBXW7-mediated ubiquitination.The lncRNA-AIRN/mTORaxis was involved in the regulation of the mitophagy of O+A treated hepatocytes, which was confirmed by the cell transfection and the MTT assay.SPSS 16.0 was used for analyzing data. The difference between the two groups was analyzed by performing Student's t-test, and ANOVA was used to analyze the difference when more than two groups. P values < 0.05 were considered to be significantly different.Our findings demonstrated that the knockdown of lncRNA-AIRN influencedmitophagy in AFL by promoting mTOR ubiquitination.
- MeSH
- alkoholická steatóza jater enzymologie genetika patologie MeSH
- buněčné linie MeSH
- down regulace MeSH
- F-Box a WD repetice obsahující protein 7 metabolismus MeSH
- hepatocyty enzymologie patologie MeSH
- jaterní mitochondrie enzymologie genetika patologie MeSH
- játra enzymologie patologie MeSH
- mitofagie * MeSH
- modely nemocí na zvířatech MeSH
- myši inbrední C57BL MeSH
- RNA dlouhá nekódující genetika metabolismus MeSH
- signální transdukce MeSH
- TOR serin-threoninkinasy metabolismus MeSH
- ubikvitinace MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
OBJECTIVE: The aim of this study was to determine if behavioral patterns during the postictal state depend on the type of seizure. METHODS: Rhythmic electrical stimulation of sensorimotor cortex can elicit two types of epileptic afterdischarges (ADs) in adult rats: the spike-and-wave type accompanied by clonic convulsions, and a transition to a nonconvulsive type characterized by behavioral automatisms (mixed type). Rats in which stimulation did not induce ADs constituted the control group. The behavior of the animals was recorded for 20 minutes after the end of ADs or stimulation. RESULTS: Stimulation elicited only shortlasting minimal changes in control rats. Spike-and-wave ADs led to alternation of normal and unsteady walking, a decrease in normal sitting and lying (rigid lying appeared instead), and wet dog shakes (WDS). Mixed-type ADs abolished normal walking and sitting and induced unsteady walking, rigid lying, and a substantial number of WDS. CONCLUSIONS: Abnormal phenomena induced by the two types of ADs differ mostly quantitatively, but also qualitatively.
- MeSH
- chování zvířat fyziologie MeSH
- chůze fyziologie MeSH
- elektrická stimulace MeSH
- elektroencefalografie MeSH
- epilepsie patofyziologie psychologie MeSH
- financování organizované MeSH
- implantované elektrody MeSH
- krysa rodu rattus MeSH
- limbický systém fyziologie MeSH
- mozková kůra patofyziologie MeSH
- péče o zevnějšek u zvířat fyziologie MeSH
- potkani Wistar MeSH
- refrakterní doba elektrofyziologická fyziologie MeSH
- thalamus fyziologie MeSH
- záchvaty patofyziologie psychologie MeSH
- zvířata MeSH
- Check Tag
- krysa rodu rattus MeSH
- mužské pohlaví MeSH
- zvířata MeSH
Administration of psychostimulants is often associated with increased seizure susceptibility. In our previous studies prenatal methamphetamine (MA) exposure increased seizure susceptibility of adult rats in models of primarily or secondarily generalized seizures induced by convulsant drugs. The effect of a single MA challenge dose in adulthood on chemically induced generalized seizures however, depends on the prenatal MA exposure history. Thus, the present study used a model of focal electrical stimulation to determine whether prenatal MA exposure with or without the adult challenge MA dose has the same outcome in a focal seizure model. Total of six groups of adult male rats were tested (prenatally MA-exposed, prenatally saline-exposed and rats without prenatal injections), each of these groups was either postnatally challenged with MA or with vehicle injection (MA-MA, MA-S; S-MA, S-S; C-MA, C-S). Seizures were induced by repetitive electrical stimulation (15 s/8 Hz) of sensorimotor cortex. Stimulation threshold, duration of afterdischarges (ADs), and presence and duration of spontaneous ADs (SAD) were evaluated. Additionally, behaviors associated with stimulation and ADs, and occurrence of wet-dog shakes (WDS) were analyzed. Our data demonstrate that daily injection of MA (5 mg/kg) within prenatal period decreased the occurrence of WDS and SADs, and shortened the duration of ADs and SADs suggesting anticonvulsant effects. Moreover, the challenge dose of MA (1 mg/kg) increased seizure threshold in all groups of rats, shortened duration of ADs in controls and prenatally saline-exposed animals, shortened duration of SADs in prenatally saline-exposed rats and totally eliminated WDS in all groups. Thus, the present study demonstrates that both chronic prenatal MA exposure and a single dose of MA in adulthood decrease focally induced epileptiform activity in adult male rats.
- MeSH
- analýza rozptylu MeSH
- antikonvulziva farmakologie MeSH
- chování zvířat účinky léků fyziologie MeSH
- elektrická stimulace MeSH
- elektroencefalografie MeSH
- krysa rodu rattus MeSH
- methamfetamin farmakologie MeSH
- mozek účinky léků patofyziologie MeSH
- náhodné rozdělení MeSH
- potkani Wistar MeSH
- stimulanty centrálního nervového systému farmakologie MeSH
- těhotenství MeSH
- záchvaty etiologie patofyziologie MeSH
- zpožděný efekt prenatální expozice MeSH
- zvířata MeSH
- Check Tag
- krysa rodu rattus MeSH
- mužské pohlaví MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
