Assignment of mitotic arrest deficient protein 2 (MAD2L1) to human chromosome band 5q23.3 by in situ hybridization.
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Calcium-Binding Proteins↗
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Results for “Yang Deficiency”
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Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.
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Acyl-CoA Dehydrogenase↗
[Effect of selenium deficiency on serum and myocardial free fatty acids and the oxidation of fatty acids by the myocardium].
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Animals↗
Effect of energy restriction on riboflavin retention in normal and deficient tissues of the rat.
We investigated the effects of energy restriction on tissue riboflavin depletion and subsequent repletion of deficient tissues. Groups of male Sprague Dawley rats with average body weights between 268 and 275g were placed on energy-restricted diets consisting of 8g (31kcal or 130kJ) per day of a basal diet adequate in all other nutrients and either 12mg of riboflavin/kg or no added riboflavin. The ad libitum controls received additional energy as a mixture of sucrose, starch, and corn oil (10:3:1 by wt). No significant difference in the degree of riboflavin deficiency was detected between energy-restricted and ad libitum-fed rats as assessed by riboflavin concentrations in the liver and gastrocnemius and soleus muscles and by the erythrocyte glutathione reductase activity coefficient (EGRAC). Additional energy-restricted riboflavin-deficient rats were subsequently repleted by feeding either the supplemented basal diet with no additional energy or with ad libitum energy. Repletion of liver riboflavin concentration and reduction of the EGRAC values to control levels occurred regardless of energy intake. Muscle riboflavin concentrations were normal in the ad libitum-fed group but decreased in the energy-restricted rats despite 4 weeks of supplementation. The latter group had muscle riboflavin levels similar to those in the rats fed the riboflavin-deficient diet for 8 weeks. The results suggest that energy restriction impairs flavo-protein synthesis in muscle but not in the liver.
Animals↗
Content of reduced glutathione and consequences in recipients of glucose-6-phosphate dehydrogenase deficient red blood cells.
The red blood cell glucose-6-phosphate dehydrogenase (G6PD) activity of every donor was examined with automatic enzyme-coupled method. The technique of molecular biology was applied to determine the DNA mutations for the 97 donors with undetectable G6PD activity. The concentration of reduced glutathione (GSH) in the stored RBC of the 97 G6PD-deficient donors and 124 normal donors was determined with the technique of high performance liquid chromatography. Routine blood counts, bilirubin and haptoglobin levels were used to evaluate posttransfusional hemolysis for the 48 adult patients transfused with 1 U G6PD deficient and 1 U normal RBC. Most (88, 90.7%) of the 97 donors were confirmed to be G6PD deficient at the DNA level. At each age interval of storage, the GSH concentration of G6PD-deficient RBC was significantly different from that of normal RBC. The total average value of GSH (pmol/gHb) was 2.52 +/- 0.95 (mean +/- 1 standard deviation) vs. 3.74 +/- 1.43 (P < 0.001). Hemoglobin, hematocrit, bilirubin, and haptoglobin levels in the patients receiving G6PD-deficient RBC were not statistically different from those in the recipients of normal RBC; even though the age of stored blood was 26-35 days. Within the same group of patients, the results of bilirubin and haptoglobin were not significantly changed before and after transfusion. The results of this study show that the GSH concentration in the stored blood of G6PD deficient donors was 67% of that in the normal donors. However, hemolysis does not occur in adult patients transfused with 1 U G6PD-deficient RBC. It seems unnecessary to screen G6PD activity for donors of adult recipients in Taiwan.
Adult↗
Leukocyte adhesion deficiency disorder: report of one case.
In this paper, a case of leukocyte adhesion deficiency disorder confirmed by flow cytometry and leukocyte chemotaxis assays is reported. The 32-day-old female infant was admitted to our ward on account of delayed umbilical cord detachment and omphalitis. After admission, hemogram revealed severe leukocytosis (white blood cell (WBC) counts: 86,800/cumm), and there was poor clinical response to several kinds of antibiotics. The above history indicated that the patient might be a case of leukocyte adhesion deficiency disorder. A definite absence of CD11b/CD18 adhesion molecule on the patient's granulocytes and severe defects of leukocyte function demonstrated by chemotaxis, chemokinesis and zymosan-induced respiratory burst assays confirmed this diagnosis.
Bone Marrow Transplantation↗
Infant mortality and maternal vitamin A deficiency during human immunodeficiency virus infection.
The maternal factors that contribute to high mortality rates among infants born to women with human immunodeficiency virus (HIV) are unclear. We followed 474 HIV-infected mothers and their infants in Malawi from pregnancy through the infants' 12th month of life. Of the 474 HIV-infected pregnant women, 300 (63.3%) were deficient in vitamin A (serum level of vitamin A, <1.05 micromol/L). Mean serum vitamin A levels among mothers whose infants died were 0.78 +/- 0.03 micromol/L compared with 1.02 +/- 0.02 micromol/L among mothers whose infants had survived for the first 12 months of life (P <.0001). The overall infant mortality rate was 28.7%. We divided HIV-positive mothers into six groups according to serum vitamin A levels (micromol/L) as follows: group 1, <0.35; group 2, between 0.35 and 0.70; group 3, between 0.70 and 1.05; group 4, between 1.05 and 1.40; group 5, between 1.40 and 1.75; and group 6, >1.75. Infant mortality rates for each group were 93.3%, 41.6%, 23.4%, 18.5%, 17.7%, and 14.2%, respectively (P < .0001). Maternal vitamin A deficiency during HIV infection may contribute to increased infant mortality.
Adult↗
Kainate receptor activation induces mixed lineage kinase-mediated cellular signaling cascades via post-synaptic density protein 95.
Kainate receptor glutamate receptor 6 (GluR6) subunit-deficient and c-Jun N-terminal kinase 3 (JNK3)-null mice share similar phenotypes including resistance to kainite-induced epileptic seizures and neuronal toxicity (Yang, D. D., Kuan, C-Y., Whitmarsh, A. J., Rincon, M., Zheng, T. S., Davis, R. J., Rakis, P., and Flavell, R. (1997) Nature 389, 865-869; Mulle, C., Seiler, A., Perez-Otano, I., Dickinson-Anson, H., Castillo, P. E., Bureau, I., Maron, C., Gage, F. H., Mann, J. R., Bettler, B., and Heinemmann, S. F. (1998) Nature 392, 601-605). This suggests that JNK activation may be involved in GluR6-mediated excitotoxicity. We provide evidence that post-synaptic density protein (PSD-95) links GluR6 to JNK activation by anchoring mixed lineage kinase (MLK) 2 or MLK3, upstream activators of JNKs, to the receptor complex. Association of MLK2 and MLK3 with PSD-95 in HN33 cells and rat brain preparations is dependent upon the SH3 domain of PSD-95, and expression of GluR6 in HN33 cells activated JNKs and induced neuronal apoptosis. Deletion of the PSD-95-binding site of GluR6 reduced both JNK activation and neuronal toxicity. Co-expression of dominant negative MLK2, MLK3, or mitogen-activated kinase kinase (MKK) 4 and MKK7 also significantly attenuated JNK activation and neuronal toxicity mediated by GluR6, and co-expression of PSD-95 with a deficient Src homology 3 domain also inhibited GluR6-induced JNK activation and neuronal toxicity. Our results suggest that PSD-95 plays a critical role in GluR6-mediated JNK activation and excitotoxicity by anchoring MLK to the receptor complex.
Animals↗
Using log-linear models to test for associations among congenital malformations.
Log-linear models can be used to test for pairwise associations and higher order interactions among anatomically distinct birth defects or congenital malformations. A log-linear model, including terms for every possible pairwise association among seven severe and easily detectable congenital malformations, was examined using data on 16,217 infants registered in the Metropolitan Atlanta Congenital Defects Program between 1968 and 1986. The resulting model showed clear patterns of strong association between some congenital malformations and not others, and the presence of 3-way interaction terms where the association between two malformations depended on the presence of a third. Examining a more parsimonious log-linear model showed overlapping patterns of pairwise association involving anal-rectal atresia and omphalocele, anal-rectal atresia and limb deficiency, and anal-rectal atresia and tracheaesophageal fistula. A second common pattern involved a triangular cluster with a hierarchical relationship among the three malformations (where there was a strong association between the first and second malformations and between the first and third malformations, but the association between the second and third was only seen in the absence of the first). Three such overlapping triangular clusters were identified from these data: neural tube defects, oral clefts, and omphalocele; neural tube defects, oral clefts, and limb deficiency; and limb deficiency, diaphragmatic hernia, and neural tube defects.(ABSTRACT TRUNCATED AT 250 WORDS)
Abnormalities, Multiple↗
Liver disease in pregnancy and fetal fatty acid oxidation defects.
Acute fatty liver of pregnancy (AFLP) and the syndrome of hemolysis, elevated liver enzymes, and low platelets (the HELLP syndrome) are serious disorders of the third trimester with high maternal and perinatal morbidity and mortality. Over the past decade, several clinical observations have demonstrated an association between these maternal syndromes and a recessively inherited fatty acid oxidation disorder, long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Many women who carried LCHAD-deficient fetuses developed maternal liver disease. Over the past few years, we and others have made significant progress in understanding the molecular basis for this fetal-maternal interaction. Here, we review the studies in literature that led to the establishment of this causative association with particular emphasis on the molecular analysis that delineated the molecular basis of this association. The likely mechanisms for the genotype-phenotype correlations in pediatric LCHAD deficiency and the fetal-maternal interaction are discussed. Finally, the potential implications of our current knowledge for families with pediatric LCHAD deficiency and for women who develop AFLP and HELLP syndrome are discussed.
3-Hydroxyacyl CoA Dehydrogenases↗
Short-term daily or weekly administration of micronutrient Sprinkles has high compliance and does not cause iron overload in Chinese schoolchildren: a cluster-randomised trial.
OBJECTIVES: To examine consumption rates and serum ferritin (SF) concentrations (as a marker of safety) among schoolchildren (3-6 years) provided with daily and weekly micronutrients. DESIGN AND METHODS: Micronutrients were provided for one school term (13 weeks) to a kindergarten in northern China as single-dose Sprinkles sachets containing 30 mg of iron as encapsulated ferrous fumarate, 5 mg zinc gluconate, 50 mg vitamin C, 300 microg vitamin A, 7.5 microg vitamin D3 and 150 microg folic acid. Sixteen classrooms were randomly assigned to: (1) daily supplements for 5 days a week (daily group); (2) weekly supplements (weekly group); or (3) no supplements (control group). Consumption of sachets was monitored for each child and SF concentrations were measured at the end of study. Random effects general linear models and graphs were used to compare the groups. RESULTS: A total of 415 children from 16 classrooms entered the study. At the end of the study, mean consumption rates per child were 86% (daily group; standard deviation (SD) 12%) and 87% (weekly group; SD 16%). Median SF concentrations were 71 microg l(-1) (range 27-292 microg l(-1); daily group), 55 microg l(-1) (range 11-299 microg l(-1); weekly group) and 54 microg l(-1) (range 7-327 microg l(-1); control group); the overall difference was not significant (P=0.06). However, the daily group was significantly different from the control (P=0.02); daily and weekly groups had higher SF at lower percentiles and similar SF at higher percentiles compared with the control group. CONCLUSION: The high consumption rates and appropriate SF concentrations in the supplemented groups suggest that a short-term school programme with Sprinkles is an efficient and safe way to provide micronutrients (including iron).
Administration, Oral↗
Maternal vitamin A deficiency and child growth failure during human immunodeficiency virus infection.
Although vitamin A is thought to influence growth, the relationship between maternal vitamin A deficiency during pregnancy and child growth is unknown. A longitudinal cohort study of 467 HIV-infected women and their children was conducted in Blantyre, Malawi. The children's weight and height were measured every 3 months until they were 24 months old. Maternal vitamin A deficiency was independently related to both linear and ponderal growth after adjustment for effects of body mass index, child gender, and child HIV status. By 12 months of age, infants born to mothers who were vitamin A-deficient during pregnancy weighed approximately 8% less (p < 0.001) and were approximately 2% shorter (p < 0.001) than infants born to mothers who were not deficient. This study suggests children born to HIV-infected women who are vitamin A-deficient during pregnancy are more likely to have growth failure.
Age Factors↗
Papillomavirus-like particles stimulate murine bone marrow-derived dendritic cells to produce alpha interferon and Th1 immune responses via MyD88.
Dendritic cells (DCs) link innate and adaptive immunity by sensing pathogens or vaccinogens and signaling a variety of defense responses. Since human papillomavirus type 16 L1 virus-like particles (HPV16 VLPs) induce a potent, protective immune response after vaccination, we examined their recognition by DCs. HPV16 VLPs cause phenotypic maturation of murine bone marrow-derived DCs (BMDCs), and immunization of mice with HPV16 VLP-loaded BMDCs or HPV16 VLPs alone induced T helper 1 (Th1)-biased immune responses. Analysis of transcriptional responses of murine BMDCs by microarray suggested that alpha/beta interferon (IFN-alpha/beta) transcripts and numerous proinflammatory cytokines and chemokines are up regulated in response to HPV16 VLPs. Indeed, the induction of IFN-alpha, IFN-gamma, and interleukin-12 (IL-12) production by BMDCs after stimulation with HPV16 VLPs was demonstrated by quantitative enzyme-linked immunosorbent assay. Many microbial products that induce proinflammatory responses are recognized via Toll-like receptor (TLR) signaling through the key adaptor protein MyD88 and activation of NF-kappaB, nuclear factor of activated T cells (NF-AT), and activating protein 1 (AP-1). Reporter assays indicated that HPV16 VLPs activated NF-kappaB-, NF-AT-, and AP-1-dependent transcription in the RAW264.7 macrophage cell line. Knockdown of MyD88 transcripts by small interfering RNA in the RAW264.7 macrophage cell line inhibited the activation of NF-kappaB-, NF-AT- and AP-1-dependent transcription by HPV16 VLP. Furthermore, MyD88(-/-) BMDCs failed to up regulate IL-12 and IFN-alpha and -gamma in response to HPV16 VLPs. Finally, Th1-biased immune responses to HPV16 VLPs are dramatically impaired in MyD88 and IFN-alpha/beta receptor-deficient mice. This implicates TLR recognition as central to immune recognition of HPV16 L1 VLPs.
Adaptor Proteins, Signal Transducing↗
Papillomavirus capsid mutation to escape dendritic cell-dependent innate immunity in cervical cancer.
Infection with oncogenic human papillomaviruses (HPVs), typified by HPV type 16 (HPV16), is a necessary cause of cervical cancer. Prophylactic vaccination with HPV16 L1 virus-like particles (VLPs) provides immunity. HPV16 VLPs activate dendritic cells and a potent neutralizing immunoglobulin G (IgG) response, yet many cervical cancer patients fail to generate detectable VLP-specific IgG. Therefore, we examined the role of the innate recognition of HPV16 L1 in VLP-induced immune responses and its evasion during carcinogenesis. Nonconservative mutations within HPV16 L1 have been described in isolates from cervical cancer and its precursor, high-grade cervical intraepithelial neoplasia (CIN). We determined the effect of mutations in L1 upon in vitro self-assembly into VLPs and their influence upon the induction of innate and adaptive immune responses in mice. Several nonconservative mutations in HPV16 L1 isolated from high-grade CIN or cervical carcinoma prevent self-assembly of L1 VLPs. Intact VLPs, but not assembly-defective L1, activate dendritic cells to produce proinflammatory factors, such as alpha interferon, that play a critical role in inducing adaptive immunity. Indeed, effective induction of L1-specific IgG1 and IgG2a was dependent upon intact VLP structure. Dendritic cell activation and production of virus-specific neutralizing IgG by VLPs requires MyD88-dependent signaling, although the L1 structure that initiates MyD88-mediated signaling is distinct from the neutralizing epitopes. We conclude that innate recognition of the intact L1 VLP structure via MyD88 is critical in the induction of high-titer neutralizing IgG. Tumor progression is associated with genetic instability and L1 mutants. Selection for assembly-deficient L1 mutations suggests the evasion of MyD88-dependent immune control during cervical carcinogenesis.
Adaptor Proteins, Signal Transducing↗
Targeted deletion of Minpp1 provides new insight into the activity of multiple inositol polyphosphate phosphatase in vivo.
Multiple inositol polyphosphate phosphatase (Minpp1) metabolizes inositol 1,3,4,5,6-pentakisphosphate (InsP(5)) and inositol hexakisphosphate (InsP(6)) with high affinity in vitro. However, Minpp1 is compartmentalized in the endoplasmic reticulum (ER) lumen, where access of enzyme to these predominantly cytosolic substrates in vivo has not previously been demonstrated. To gain insight into the physiological activity of Minpp1, Minpp1-deficient mice were generated by homologous recombination. Tissue extracts from Minpp1-deficient mice lacked detectable Minpp1 mRNA expression and Minpp1 enzyme activity. Unexpectedly, Minpp1-deficient mice were viable, fertile, and without obvious defects. Although Minpp1 expression is upregulated during chondrocyte hypertrophy, normal chondrocyte differentiation and bone development were observed in Minpp1-deficient mice. Biochemical analyses demonstrate that InsP(5) and InsP(6) are in vivo substrates for ER-based Minpp1, as levels of these polyphosphates in Minpp1-deficient embryonic fibroblasts were 30 to 45% higher than in wild-type cells. This increase was reversed by reintroducing exogenous Minpp1 into the ER. Thus, ER-based Minpp1 plays a significant role in the maintenance of steady-state levels of InsP(5) and InsP(6). These polyphosphates could be reduced below their natural levels by aberrant expression in the cytosol of a truncated Minpp1 lacking its ER-targeting N terminus. This was accompanied by slowed cellular proliferation, indicating that maintenance of cellular InsP(5) and InsP(6) is essential to normal cell growth. Yet, depletion of cellular inositol polyphosphates during erythropoiesis emerges as an additional physiological activity of Minpp1; loss of this enzyme activity in erythrocytes from Minpp1-deficient mice was accompanied by upregulation of a novel, substitutive inositol polyphosphate phosphatase.
3T3 Cells↗
Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing.
BACKGROUND: MAGEL2 is an autism susceptibility gene whose deficiency has been associated with autism-related behaviors in animal models and in syndromic human autism spectrum disorders (ASDs) such as Schaaf-Yang syndrome, but has not been studied in the broader autism spectrum. Given the capabilities of long-read sequencing technologies, this pilot study used a targeted nanopore sequencing approach to simultaneously examine MAGEL2 DNA sequence and methylation in adults with high-functioning autism (HFA) compared to neurotypical controls (NC). METHODS: Using DNA extracted from peripheral blood, Cas9-targeted nanopore DNA sequencing was used to analyze MAGEL2, including its entire regulatory construct (chr15:23639316-23651466), for sequence variation and 5-methyl-cytosine (5mC) modification in a cohort of adults with HFA compared to sex- and age-matched NC. Given the known sex differences in ASD and MAGEL2 KO animal models, results were further analyzed by sex. RESULTS: 20 adults with HFA (10 males, 10 females) and 20 NC were included. While there were no overall differences in MAGEL2 DNA sequence and 5mC modification between HFA and NC, we found a significant difference in MAGEL2 gene promoter methylation between males and females with HFA and NC of both sexes, with HFA males tending to show hypomethylation in a 300 bp long differentially methylated region (chr15:23647640-23647939) around the MAGEL2 transcription start site. CONCLUSIONS: In this pilot study utilizing nanopore Cas9 targeted DNA sequencing, significant sex-specific differences in MAGEL2 gene promoter methylation were identified in male adults with HFA in comparison to control groups, suggesting the potential for sex-specific epigenetic differences. However, further replication in larger cohorts is required to validate these findings.
Humans↗
[Clinical evaluation of ceramic inlay made by CAD/CAM for 3 year]
In this study,ceramic inlays made by CAD/CAM system were used to restore posterior tooth defects.After three years of clinical observation on 21 prostheses no secondary caries was found and patients satisfied with their restoration on aspects of color match and resistance to wear etc.Five cases of inlay fracture and of obvious space between inlay margin and Cavowall were found.The main reason was the insufficient thickness of the inlays meanwhile the selection of bonding agent was not appropriate.The clinical successful rate is 76.20%.As CAD/CAM is a sophisticated technique induced into prosthodontic area just in 1980's,it has still some deficiency to be improved and perfected.
Journal Article↗
Relationship between magnesium levels in drinking water and sudden infant death syndrome.
The possible association between the risk of death from sudden infant death syndrome (SIDS) and the levels of magnesium in drinking water from municipal supplies was investigated in a matched case-control study in Taiwan. Characteristics for all SIDS deaths (501 cases) among Taiwan residents from 1988 through 1997 were compared with those of people who died from other causes (501 controls). The levels of magnesium in the drinking water of these residents were determined from data obtained from the Taiwan Water Supply Corporation (TWSC). The controls were pair-matched to the SIDS cases by sex, month and year of birth. The results of our study show that there is a significant trend towards a decreased risk of SIDS with increasing magnesium levels in drinking water.
Case-Control Studies↗