A novel MIPgene mutation associated with autosomal dominant congenital cataracts in a Chinese family

BACKGROUND: The major intrinsic protein gene (MIP), also known as MIP26 or AQP0, is a member of the water-transporting aquaporin family, which plays a critical role in the maintenance of lifelong lens transparency. To date, several mutations in MIP (OMIM 154050) have been linked to hereditary cataracts in humans. However, more pathogenic mutations remain to be identified. In this study, we describe a four-generation Chinese family with a nonsense mutation in MIP associated with an autosomal dominant congenital cataract (ADCC), thus expanding the mutational spectrum of this gene. METHODS: A large four-generation Chinese family affected with typical Y-suture cataracts combined with punctuate cortical opacities and 100 ethnically matched controls were recruited. Genomic DNA was extracted from peripheral blood leukocytes to analyze congenital cataract-related candidate genes. Effects of the sequence change on the structure and function of proteins were predicted by bioinformatics analysis. RESULTS: Direct sequencing of MIP in all affected members revealed a heterozygous nucleotide exchange c.337C>T predicting an arginine to a stop codon exchange (p.R113X). The substitution co-segregated well in all the affected individuals in the family and was not found in unaffected members or in the 100 unrelated healthy controls. Bioinformatics analysis predicted that the mutation affects the secondary structure and function of the MIP protein. CONCLUSIONS: We identified a novel mutation of MIP (p.R113X) in a Chinese cataract family. This is the first nonsense mutation of MIP identified thus far. This novel mutation is also the first disease-causing mutation located in the loop C domain of MIP. The results add to the list of mutations of the MIP linked to cataracts

Dietary plant soot supplementation improves the intestinal health status of farmed American eels (<em>Anguilla rostrata</em>)

The current study evaluated the effect of different dietary plant soot supplementation levels on the intestinal health status of American eels (Anguilla rostrata) cultured in concrete tanks. Nine concrete fish tanks were randomly divided into three groups and fed the diets with plant soot (PS) supplementation levels at 0, 3 g/kg, and 5 g/kg, respectively. After a feeding trial for 60 days, the intestinal tissues were sampled to measure health status parameters. The D-lactate level and DAO activity in the serum of the PS5 group were significantly lower than those of the PS0 group (P <0.05). Compared with the PS0 group, the villi length of the intestine in both PS3 group and PS5 group increased significantly (P<0.05). The muscular thickness of the intestine of the PS5 group was significantly higher than the PS0 group (P<0.05). The microvillus density of the intestine of the American eel was increased obviously in the PS5 group. The intestinal microbiota composition of plant soot groups was beneficially regulated with certain probiotics' higher relative abundances and some pathogenic bacteria' lower relative abundance. In conclusion, dietary 5 g/kg plant soot supplementation could benefit the intestinal health of farmed American eels

A New ZrCuSiAs-Type Superconductor: ThFeAsN

We report the first nitrogen-containing iron-pnictide superconductor ThFeAsN, which is synthesized by a solid-state reaction in an evacuated container. The compound crystallizes in a ZrCuSiAs-type structure with the space group P4/nmm and lattice parameters a=4.0367(1) {\AA} and c=8.5262(2) {\AA} at 300 K. The electrical resistivity and dc magnetic susceptibility measurements indicate superconductivity at 30 K for the nominally undoped ThFeAsN.Comment: 6 pages, 4 figures, 1 tabl

Acupuncture for Essential Hypertension: A Meta-Analysis of Randomized Sham-Controlled Clinical Trials

Background. Acupuncture is frequently advocated as an adjunct treatment for essential hypertension. The aim of this review was to assess its adjunct effectiveness in treating hypertension. Methods. We searched PubMed, the Cochrane Library, EMBASE, and the Chinese databases Sino-Med, CNKI, WanFang, and VIP through November, 2012, for eligible randomized controlled trials that compared acupuncture with sham acupuncture. Outcome measures were changes in diastolic (DBP) and systolic blood pressure (SBP). Results. A total of 4 randomized controlled trials were included. We found no evidence of an improvement with the fact that acupuncture relative to sham acupuncture in SBP change (n=386; mean difference = −3.80 mmHg, 95% CI = −10.03–2.44 mmHg; I2=99%), and an insignificant improvement in DBP change (n=386; mean difference = −2.82 mmHg, 95% CI = −5.22–(−0.43) mmHg; I2=97%). In subgroup analyses, acupuncture significantly improved both SBP and DBP in patients taking antihypertensive medications. Only minor acupuncture-related adverse events were reported. Conclusions. Our results are consistent with acupuncture significantly lowers blood pressure in patients taking antihypertensive medications. We did not find that acupuncture without antihypertensive medications significantly improves blood pressure in those hypertensive patients

FoxO Transcription Factor Regulate Hormone Mediated Signaling on Nymphal Diapause

Diapause is a complex physiological adaptation phenotype, and the transcription factor Forkhead-box O (FoxO) is a prime candidate for activating many of its diverse regulatory signaling pathways. Hormone signaling regulates nymphal diapause in Laodelphax striatellus. Here, the function of the FoxO gene isolated from L. striatellus was investigated. After knocking-down LsFoxO in diapausal nymphs using RNA interference, the titers of juvenile hormone III and some cold-tolerance substances decreased significantly, and the duration of the nymphal developmental period was severely shorted to 25.5 days at 20°C under short day-length (10 L:14 D). To determine how LsFoxO affects nymphal diapause, analyses of RNA-sequencing transcriptome data after treatment with LsFoxO–RNA interference was performed. The differentially expressed genes affected carbohydrate, amino acid and fatty acid metabolism, and phosphatidylinositol 3-kinase/protein kinase B signaling pathway. Thus, LsFoxO acts on L. striatellus nymphal diapause and is, therefore, a potential target gene for pest control. This study may lead to new information on the regulation of nymphal diapause in this important pest

Quantitative Proteomic and Transcriptomic Analyses of Metabolic Regulation of Adult Reproductive Diapause in Drosophila suzukii (Diptera: Drosophilidae) Females

Diapause is a form of dormancy used by many insects to survive adverse environmental conditions, which can occur in specific developmental stages in different species. Drosophila suzukii is a serious economic pest and we determined the conditions for adult reproductive diapause by the females in our previous studies. In this study, we combined RNA-Seq transcriptomic and quantitative proteomic analyses to identify adult reproductive diapause-related genes and proteins. According to the transcriptomic analysis, among 242 annotated differentially expressed genes in non-diapause and diapause females, 129 and 113 genes were up- and down-regulated, respectively. In addition, among the 2,375 proteins quantified, 39 and 23 proteins were up- and down-regulated, respectively. The gene expression patterns in diapause- and non-diapause were confirmed by qRT-PCR or western blot analysis. The overall analysis of robustly regulated genes at the protein and mRNA levels found four genes that overlapped in the up-regulated group and six genes in the down-regulated group, and thus these proteins/genes may regulate adult reproductive diapause. These differentially expressed proteins/genes act in the citrate cycle, insulin signaling pathway, PI3K-Akt signaling pathway, and amino acid biosynthesis pathways. These results provide the basis for further studies of the molecular regulation of reproductive diapause in this species

Travel Time Model of Left-Turning Vehicles at Signalized Intersection

The travel time of left-turning vehicles at signalized intersection was discussed. Under the assumption that the opposing through vehicles headway follows M3 distribution, the travel time model was established on the basis of gap theory and queue theory. Comparison was done with the common model based on the assumption that the opposing through vehicles headway follows negative exponential distribution. The results show that the model in this paper has stronger applicability and its most relative error is less than 15%. In addition, the sensitivity analysis was done. The results show that the opposing through flow rate has significant impact on travel time. The impact of left-turning flow rate and following headway is light when the opposing through flow rate is small, the threshold is about 0.18 veh/s. The model established in this paper can well calculate travel time of left-turning vehicles at intersection, and the methodology may provide reference to other occasions