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Biomedical subjects

R E Williams

Publications and source records attributed to R E Williams.

At least 19 recordsLinked to original sources

Glutamine synthetase activity and expression are not affected by the development of motor neuronopathy in the G93A SOD-1/ALS mouse.

The expression and activity of the enzyme glutamine synthetase (GS) were examined in the G93A/SOD-1 transgenic mouse model of progressive motor neuronopathy to investigate the mechanisms underlying degeneration of the motor neurones. Clinical signs appeared in G93A/SOD-1 mice at around 90 days, with severe spasticity and loss of self-righting reflex from 120 to 150 days of age. GS expression was examined using western blotting in primary astrocyte cultures derived from newborn (P1-2) G93A/SOD-1 mice and their non-transgenic littermates and in lower spinal cord from animals at 30, 60 and 90 days of age and disease end-stage (120-150 days). There were no differences in the levels of GS expression in the transgenic mice compared to the unaffected littermates at any of the disease stages examined. GS activity was measured spectrophotometrically in spinal cord extracts at these disease stages. There was a decrease in V(max) at 60 days compared to 30 days in both groups of mice (3.48+/-0.58 cf. 6.43+/-1.83 mmol/h/mg protein; non-transgenic littermates), with GS activity highest at end-stage (9.38+/-0.71 mmol/h/mg protein cf. 7.64+/-0.42 mmol/h/mg protein in littermates). Conversely, K(m) was transiently increased at 60 days (2.53+/-0.26 mM cf. 1.32+/-0.20 in littermates), remaining within the range of 30 day measurements from 90 days onwards. There were no differences in V(max) or K(m) values between the G93A/SOD-1 mice and their unaffected non-transgenic littermates at any of the disease stages examined. We conclude that there is no evidence that a change in glutamine synthetase activity or expression contributes to the progressive neurodegeneration observed in the G93A/SOD-1 mice.

Amyotrophic Lateral Sclerosis↗

Cultured glial cells are resistant to the effects of motor neurone disease-associated SOD1 mutations.

Free radical damage has been implicated in the pathophysiology of motor neurone disease (MND); mutations have been identified in the gene encoding Cu/Zn superoxide dismutase (SOD1). There is evidence that glial cell dysfunction may contribute to motor neurone injury, but the exact role of glial cells in MND has yet to be established. The aim of this study was to determine whether expression of mutant SOD1 affects the response of glia to oxidative stress. Stable C6 glioma cells expressing mutant SOD1 and cortical astrocyte cultures from G93A-SOD1 transgenic mice were exposed to: xanthine/xanthine oxidase; hydrogen peroxide; A23187 and 3-morpholinosydonimine. Cell viability was measured using the 3-(4,5-dimethyl-thiazol-2-yl)-2,5-diphenyltetrazolium bromide assay. Neither C6 glioma cells nor cortical astrocytes expressing mutant SOD1 were more susceptible to any of the free radical generating systems compared to control cells. These results suggest that astrocytes are resistant to the toxic effects of mutant SOD1 widely reported for neuronal cells.

Animals↗

Empirical and ab initio energy/architectural patterns for 73 nido-6 -carborane isomers, from B(6)H(9)(-) to C(4)B(2)H(6).

Qualitative rules governing carbon and bridge-hydrogen placement permit the prediction of the most stable isomeric structures for the various carboranes. Seventy-three isomeric boron hydride and carborane structures, from B(6)H(9)(-) to C(4)B(2)H(6), were computed at the ab initio MP2(fc)/6-31G level to determine their relative stabilities quantitatively. Specific architectural features, recognized to be unfavorable, were assigned "energy penalty" values that allow the projection of comprehensive thermodynamic stability values via a simple additivity procedure. These values match the ab initio results with surprising precision. Our study includes Siebert's nido-2,3,5-C(3)B(3)H(7) and Wrackmeyer's nido-2,4-C(2)B(4)H(8) nido-6 carboranes, which contain "unusual" CH-B-bridge hydrogens.

Journal Article↗

MRI studies of the neurotoxic effects of L-2-chloropropionic acid on rat brain.

L-2-Chloropropionic acid (L-CPA) is selectively toxic to rat cerebellar granule cells; necrosis is first observed about 36 hours after administration of L-CPA (750 mg/kg p.o.) becoming more marked by 48 h. Parallel to the onset of cell death an increase in cerebellar water content and sodium concentration has been reported suggesting an oedematous reaction. In this study T(2)-weighted (T(2)WI) and diffusion weighted (DWI) imaging were used to detect the development of neuronal damage in the cerebellum of rats as a result of exposure to L-CPA. T(2)WI and DWI were not able to detect cerebellar abnormalities at 37 h post-dosing except for a slight swelling of the cerebellum. However, at 48 h post-dosing when cerebellar swelling and granule cell necrosis were marked, T(2)WI and DWI hyperintensities were observed in the cerebellum. Therefore, under the conditions of this study, MRI was not able to detect abnormalities in the cerebellum prior to the onset of the clinical signs of neurotoxicity or at the time of early histological changes. T(2)WI also suggested a marked increase in the amount of fluid in the ventricular system of rats 37 and 48 h after dosing; fluid accumulation was observed in all animals studied whether or not necrosis was detected. The occurrence of T(2)WI hyperintensity in the forebrain lead us to discover a new lesion in the habenular nucleus.

Animals↗

Degradation of explosives by nitrate ester reductases.

Explosive-contaminated land poses a hazard both to the environment and to human health. Microbial enzymes, either in their native or heterologous hosts, are a powerful and low-cost tool for eliminating this environmental hazard. As many explosives have only been present in the environment for 10 years, and with similar molecules not known in Nature, the origin of enzymes specialized for the breakdown of explosives is of particular interest. Screening of environmental isolates resulted in the discovery of flavoproteins capable of denitrating the explosives pentaerythritol tetranitrate (PETN) and glycerol trinitrate. These nitrate ester reductases are related in sequence and structure to Old Yellow Enzyme from Saccharomyces carlsbergenisis. All the members of this family have alpha/beta barrel structures and FMN as a prosthetic group, and reduce various electrophilic substrates. The nitrate ester reductases are, however, unusual in that they display activity towards the highly recalcitrant, aromatic explosive 2,4,6-trinitrotoluene, via a reductive pathway resulting in nitrogen liberation. We have embarked on a detailed study of the structure and mechanism of PETN reductase from a strain of Enterobacter cloacae. Work is focused currently on relating structure and function within this growing family of enzymes, with a view to engineering novel enzymes exhibiting useful characteristics.

Biodegradation, Environmental↗

Neuroprotective effects of MK-801 on L-2-chloropropionic acid-induced neurotoxicity.

L-2-Chloropropionic acid is selectively toxic to the cerebellum in rats; the granule cell necrosis observed within 48 h can be prevented by prior administration of MK-801. Short-term treatment (2 h) with L-2-chloropropionic acid has also been shown to activate the mitochondrial pyruvate dehydrogenase complex in fasted adult rats. This study aimed to investigate the effect of prior exposure to MK-801 on the biochemical and neurotoxicological effects of L-2-chloropropionic acid. Extracts were prepared from the forebrain and cerebellum of animals that had been treated with L-2-chloropropionic acid, with and without prior treatment with MK-801, and were analysed using magnetic resonance spectroscopy and amino acid analysis. Glucose metabolism was studied by monitoring the metabolism of [1-(13)C]-glucose using GC/MS. L-2-Chloropropionic acid caused increased glucose metabolism in both brain regions 6 h after administration, confirming activation of the pyruvate dehydrogenase complex, which was not prevented by MK-801. After 48 h an increase in lactate and a decrease in N-acetylaspartate was observed only in the cerebellum, whereas phosphocreatine and ATP decreased in both tissues. MK-801 prevented the changes in lactate and N:-acetylaspartate, but not those on the energy state. These studies suggest that L-2-chloropropionic acid-induced neurotoxicity is only partly mediated by the NMDA subtype of glutamate receptor.

Amino Acids↗

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

One variant form of late infantile neuronal ceroid lipofuscinosis (LINCL) is found predominantly within the Turkish population (CLN7). Exclusion mapping showed that CLN7 was not an allelic variant of known NCL loci (CLN1, CLN2, CLN3, CLN5 or CLN6). Using the method of homozygosity mapping, a genome-wide search was undertaken and a total of 358 microsatellite markers were typed at an average distance of about 10 cM. A region of shared homozygosity was identified on chromosome 8p23. This telomeric region contained the recently identified CLN8 gene. A missense mutation in CLN8 causes progressive epilepsy with mental retardation (EPMR) or Northern epilepsy, which has so far been reported only from Finland and is now classified as an NCL. The mouse model mnd has been shown to carry a 1 bp insertion in the orthologous Cln8 gene. Statistically significant evidence for linkage was obtained in this region, with LOD scores > 3, assuming either homogeneity or heterogeneity. Flanking recombinants defined a critical region of 14 cM between D8S504 and D8S1458 which encompasses CLN8. This suggests that Turkish variant LINCL, despite having an earlier onset and more severe phenotype, may be an allelic variant of Northern epilepsy. However mutation analysis has not so far identified a disease causing mutation within the coding or non-coding exons of CLN8 in the families. The Turkish variant LINCL disease-causing mutation remains to be delineated.

Alleles↗

Analysis of candidate genes in the CLN6 critical region using in silico cloning.

CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23. Subsequently the critical region was narrowed to less than 1 cM between microsatellite markers D15S988 and D15S1000 by additional marker typing in an expanded family resource. A physical map was constructed across this region using YAC and PAC clones and sequence was generated from two PAC clones. This sequence was analysed together with overlapping sequence generated by the Human Genome Project to identify genes within the region using an in silico cloning approach. In all, 29 genes have been identified and 18 have been analysed for mutations by direct sequencing. This powerful new approach will lead to the identification of CLN6.

Chromosome Mapping↗

Gluteus medius and rump fat depths as additional live animal ultrasound measurements for predicting retail product and trimmable fat in beef carcasses.

This study was conducted to determine the ability of additional ultrasound measures to enhance the prediction accuracy of retail product and trimmable fat yields based on weight and percentage. Thirty-two Hereford-sired steers were ultrasonically measured for 12th-rib fat thickness, longissimus muscle area, rump fat thickness, and gluteus medius depth immediately before slaughter. Chilled carcasses were evaluated for USDA yield grade factors and then fabricated into closely trimmed, boneless subprimals with 0.32 cm s.c. fat. The kilogram weight of end-point product included the weight of trimmed, boneless subprimals plus lean trim weights, chemically adjusted to 20% fat, whereas the fat included the weight of trimmed fat plus the weight of fat in the lean trim. Prediction equations for carcass yield end points were developed using live animal or carcass measurements, and live animal equations were developed including ultrasound ribeye area or using only linear measurements. Multiple regression equations, with and without ultrasound rump fat thickness and gluteus medius depth, had similar R2 values when predicting kilograms of product and percentages of product, suggesting that these alternative variables explained little additional variation. Final unshrunk weight and ultrasound 12th-rib fat thickness explained most of the variation when predicting kilograms of fat. Rump fat and gluteus medius depth accounted for an additional 10% of the variation in kilograms of fat, compared with the equation containing final weight, ultrasound ribeye area, and ultrasound 12th-rib fat thickness; however, the two equations were not significantly different. Prediction equations for the cutability end points had similar R2 values whether live animal ultrasound measurements or actual carcass measurements were used. However, when ultrasound ribeye area was excluded from live animal predictions, lower R2 values were obtained for kilograms of product (0.81 vs 0.67) and percentages of product (0.41 vs 0.17). Conversely, the exclusion of ultrasound ribeye area had little effect on the prediction accuracy for kilograms of fat (0.75 vs 0.74) and percentage fat (0.50 vs 0.40). These data substantiate the ability of live animal ultrasound measures to accurately assess beef carcass composition and suggest that the alternative ultrasound measures, rump fat and gluteus medius depth, improve the accuracy of predicting fat-based carcass yields.

Adipose Tissue↗

Tail-docking alters fly numbers, fly-avoidance behaviors, and cleanliness, but not physiological measures.

Tail docking is an animal well-being issue not only regarding the docking procedures but also because of concerns during fly season. To address the latter question, we selected eight cows that had been tail-docked in a previous experiment and eight nondocked cows matched by stage of lactation. Physiological, immunological, and behavioral measures were used to evaluate the well being of those cows housed in a tie-stall barn during fly season for 5 consecutive days. Behavior was observed for 5-min interval instantaneous scan samples for 1 h each at 0800, 1200, and 1600 h. Flies were counted before behavior observations. Blood samples were taken daily for plasma and leukocyte separation. Cows were scored on d 5 for cleanliness on a five-point scale. Docked cows were cleaner, but fly counts of docked cows were greater for total fly counts and rear leg counts. However, counts were not different on front legs. Time of day was significant, so each time of day was analyzed separately. Docked cows were observed to exhibit fewer tail swings at 0800 h, but docked cows tended to ruminate more at that time. Docked cows tended to stand less at the 1200 h observation. Total fly-avoidance behaviors were greater for all cows at the 1600-h observation. Only tail swings tended to be more frequent with docked cows, but foot stomps occurred only in the docked cows. Lymphocyte phenotypes, acute-phase proteins, and immunoglobulin concentrations did not differ. In conclusion, although docked cows were cleaner, as the fly numbers increase throughout the day, fly-avoidance behaviors also increased and foot stomping appeared as an alternative method for fly avoidance by docked cows.

Acute-Phase Proteins↗

Cloning, sequencing and expression in Escherichia coli of the primary alcohol dehydrogenase gene from Thermoanaerobacter ethanolicus JW200.

The structural gene, adhA, for a thermostable primary alcohol dehydrogenase was cloned from Thermoanaerobacter ethanolicus JW200. Constitutive expression from its own promoter was observed in Escherichia coli. The nucleotide sequence of adhA corresponded to an open reading frame of 1197 bp, encoding a polypeptide of 399 amino acids with a calculated Mr of 43 192. Amino acid sequence analysis showed 67-69% identity with alcohol dehydrogenases from two archaeal species and 29-37% identity with bacterial type III alcohol dehydrogenases. This represents the first reported cloning of an alcohol dehydrogenase from a bacterial species that is both thermostable and active against primary long-chain alcohols.

Alcohol Dehydrogenase↗

Inclusion of S-sepharose beads in the culture medium significantly improves recovery of secreted rBPI(21) from transfected CHO-K1 cells.

rBPI(23), a recombinant N-terminal fragment of human bactericidal/permeability-increasing protein (BPI), kills gram-negative bacteria and binds endotoxin. rBPI(21), a variant, in which cysteine 132 is changed to alanine, retains the activities of rBPI(23). Initial attempts using conventional ion-exchange chromatography to purify rBPI(23) from culture supernatants of transfected CHO-K1 cells resulted in lower than expected yields. Also, ELISA of supernatants from CHO-K1 transfectants expressing rBPI(23) or rBPI(21) yielded variable signals. Results from pulse-chase experiments using [(35)S]methionine had indicated that rBPI(23) could not be detected in the culture medium by 7 h of chase, suggesting that these proteins were degraded and/or bound to cells, media components, or vessel surfaces. To address these issues, we developed a novel process whereby sterile S-Sepharose beads were added directly to the cell culture medium. For attached cells, the beads were added to confluent cultures with serum-free medium for the expression phase, while for suspension-adapted cells, beads were added at the beginning of culture growth. The S-Sepharose was then separated from cells and media and washed, and BPI was eluted with high-salt buffer. This approach yielded up to a 50-fold improvement in recovery of rBPI(23) and rBPI(21) from roller bottles, shake flasks, and 2-liter fermenters. It also resulted in improved detection and quantitation of secreted rBPI(23) and rBPI(21) by ELISA. Results of competition binding studies with iodinated rBPI(21) in conjunction with unlabeled rBPI(21) and rBPI(23) or with heparin demonstrated that these proteins bound specifically and with high affinity to heparan-containing sites on the surface of the CHO-K1 cells. We conclude that the S-Sepharose included in the culture medium captures the BPI protein products as they are secreted and protects them from degradation and/or irreversible binding to cell surfaces. This method has been scaled up to a manufacturing process in large (2750 liter) fermenters for pharmaceutical production.

Animals↗

A prospective study of faecal bile acids and colorectal cancer.

A prospective study of 7079 people aged 45-74 recruited through general practices in South Wales, Herefordshire and Edinburgh, Scotland was undertaken to test the hypothesis that faecal bile acids are implicated in the causation of large bowel cancer. The population was recruited between 1974 and 1980 and the response rate for stool collection was 67%. Bile acid analyses were performed on those cases that presented by 1990. It was decided in advance to examine the hypothesis separately for left- and right-sided bowel cancer because of known epidemiological differences between the two sites and to exclude the cases presenting within 2 years of the stool sample from the analyses because the cancer could have been present at recruitment and might have possibly affected faecal bile acid concentrations. Each case (n = 51 left-sided and 8 right-sided) was matched with three controls by age (within 5 years), sex, place of residence and time of providing the stool sample (within 3 months). Statistical analyses using conditional logistic regression showed no significant differences between the left-sided cases and controls for any of the concentrations of individual bile acids, total bile acid concentrations, faecal neutral steroids, percentage bacterial conversion and the ratio of lithocholic acid to deoxycholic acid concentrations. There was a statistically significant (P = 0.021) association of the presence of chenodeoxycholic acid (5/8 samples) in the right-sided cases compared with the controls (3/23), odds ratio 6.26 (95% confidence interval 1.19, 32.84). A high proportion of primary bile acids has also been found in other studies of patients with a genetic predisposition to proximal bowel cancer, however this pattern may also occur in low risk groups, such as Indian vegetarians, suggesting that they may predispose to right-sided bowel cancer only in the presence of other, as yet unknown factors. If bile acids are involved in the causation of large bowel cancer, they may be part of a complex set of interacting factors.

Aged↗

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which map to chromosomes 13q21 and 15q21-23. A subset of Turkish families with a variant phenotype has been identified. Affected individuals have curvilinear bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6. These families appear to represent a new locus. Homozygosity mapping is being used to map this locus, which has been designated CLN7.

DNA Mutational Analysis↗

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

CLN6, the gene for a variant late infantile neuronal ceroid lipofuscinosis, has been mapped to chromosome 15q21-23 by homozygosity mapping. At present the family resource consists of 31 families. By the analysis of additional polymorphic markers in this resource the critical region has been narrowed down from 12 cM to less than 4 cM. A physical map is being constructed using YAC and PAC clones as a prerequisite to transcript mapping.

Alleles↗

Ultrastructural and electrophysiological correlation of the genotypes of NCL.

Several genetically different, but clinically similar childhood forms of neuronal ceroid lipofuscinosis are now recognized. Accurate diagnosis is important so that appropriate genetic advice can be given, molecular analysis can be undertaken, and prenatal testing can be considered. A combined clinical, electrophysiological, and histological (light and electron microscopy) approach offers the most reliable means of diagnosis in the majority of patients. Patients with an unusual presentation will also be identified.

Electroencephalography↗

The European Concerted Action NCL Clinical Case Registry.

A European NCL Clinical Case Registry has been set up in London, as part of a European Union-funded Concerted Action project. Concerted Action participants provide written information about children which is then anonymized and entered on the Registry. Contributors are able to request information contained within the Registry for the purpose of epidemiological, molecular, diagnostic, or therapeutic research. Up to May 1998, 60 cases were entered on the Registry.

Europe↗