248 research outputs found
Chaetoceros Ceratosporum Diatomae in Feed Formula to Increase Growth and Post Larvae Immunity of Tiger Shrimp (Penaeus Monodon Fab.) to Vibrio Harveyi Infection
This experiment aims to determine the effect and the best dose of Chaetoceros ceratosporum diatomae utilization in feed formula for post larvae of tiger shrimp (Penaeus monodon Fab.) growth and immunity to Vibrio harveyi infection. This research applied Completely Randomized Design (CRD) with 4 treatments and 3 replications. The treatment use Chaetoceros ceratosporum diatomae in feed formula (iso protein 39.02% and iso energy 3.58 kcal/g diet) in different doses, i.e. treatment A = 0 %; B = 3.04 %; C = 6.0 8%; D = 9.12 %. Observed parameters were Survival Rate, Growth Rate, Food Conversion Ratio (FCR) and Protein Efficiency Ratio (PER). Result showed that Chaetoceros ceratosporum diatomae utilization in feed formula affect the increase of growth and immunity of post larvae of tiger shrimp (Penaeus monodon Fab.) to Vibrio harveyi infection. The best dose in feed formula ranged from 5,75% – 5,95%
Plasma S-adenosylmethionine, DNMT polymorphisms, and peripheral blood LINE-1 methylation among healthy Chinese adults in Singapore
10.1186/1471-2407-13-389BMC Cancer13-BCMA
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease
BACKGROUND: Recent evidence suggests that brain-derived neurotrophic factor (BDNF) is an attractive candidate for modifying age at onset (AO) in Huntington disease (HD). In particular, the functional Val66Met polymorphism appeared to exert a significant effect. Here we evaluate BDNF variability with respect to AO of HD using markers that represent the entire locus. METHODS: Five selected tagging polymorphisms were genotyped across a 65 kb region comprising the BDNF gene in a well established cohort of 250 unrelated German HD patients. RESULTS: Addition of BDNF genotype variations or one of the marker haplotypes to the effect of CAG repeat lengths did not affect the variance of the AO. CONCLUSION: We were unable to verify a recently reported association between the functional Val66Met polymorphism in the BDNF gene and AO in HD. From our findings, we conclude that neither sequence variations in nor near the gene contribute significantly to the variance of AO
Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)
<p>Abstract</p> <p>Background</p> <p>Mutations in the <it>SPG4 </it>gene (spastin) and in the <it>SPG3A </it>gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). Recently, mutations in the <it>REEP1 </it>gene were identified to cause autosomal dominant HSP type SPG31. The purpose of this study was to determine the prevalence of <it>REEP1 </it>mutations in a cohort of 162 unrelated Caucasian index patients with 'pure' HSP and a positive family history (at least two persons per family presented symptoms).</p> <p>Methods</p> <p>162 patients were screened for mutations by, both, DHPLC and direct sequencing.</p> <p>Results</p> <p>Ten mutations were identified in the <it>REEP1 </it>gene, these included eight novel mutations comprising small insertions/deletions causing frame shifts and subsequently premature stop codons, one nonsense mutation and one splice site mutation as well as two missense mutations. Both missense mutations and the splice site mutation were not identified in 170 control subjects.</p> <p>Conclusion</p> <p>In our HSP cohort we found pathogenic mutations in 4.3% of cases with autosomal dominant inheritance. Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of <it>REEP1 </it>mutations.</p
Technologies for the global energy transition
The availability of reliable, affordable and mature technologies is at the basis of an effective decarbonization strategy, that should be in turn supported by timely and accurate policies. Due to the large differences across sectors and countries, there is no silver bullet to support decarbonization, but a combination of multiple technologies will be required to reach the challenging goal of decarbonizing the energy sector. This chapter presents a focus on the current technological solutions that are available in four main sectors: power generation, industry, transport and buildings. The aim of this work is to highlight the main strengths and weaknesses of the current technologies, to help the reader in understanding which are the main opportunities and challenges related to the development and deployment of each of them, as well as their potential contribution to the decarbonization targets. The chapter also provides strategies and policy recommendations from a technology point of view on how to decarbonize the global energy systems by mid-century and of the necessity to take a systems approach
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Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
Many genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e. effects of modifier genes on the disease gene) may underlie this variation, but the mechanistic basis for such epistatic interactions is rarely understood. Here we report a novel epistatic interaction between SPAST and the contiguous gene DPY30, which modifies age at onset in hereditary spastic paraplegia, a genetic axonopathy. We found that patients with hereditary spastic paraplegia caused by genomic deletions of SPAST that extended into DPY30 had a significantly younger age at onset. We show that, like spastin, the protein encoded by SPAST, the DPY30 protein controls endosomal tubule fission, traffic of mannose 6-phosphate receptors from endosomes to the Golgi, and lysosomal ultrastructural morphology. We propose that additive effects on this pathway explain the reduced age at onset of hereditary spastic paraplegia in patients who are haploinsufficient for both genes.This work was supported by grants to E.R.; Project Grant from United States Spastic Paraplegia Foundation, UK Medical Research Council Project Grant [MR/M00046X/1], Project grant from NIHR Biomedical Research Centre at Addenbrooke’s Hospital, Wellcome Trust Senior Research Fellowship in Clinical Science [082381], Project Grant from Tom Wahlig Stiftung (project 33). J.E. and P.M. are supported by a Wellcome Trust Principal Research Fellowship Grant to Margaret S. Robinson [086598]. T.M.N. was supported by an MRC PhD studentship [G0800117]. B.W. is supported by the Tom Wahlig Advanced Fellowship, the German Federal Ministry of Education and Research (BMBF, 01GQ113), the Bavarian Ministry of Education and Culture, Sciences and Arts in the framework of the Bavarian Molecular Biosystems Research Network and ForIPS, and the Interdisciplinary Centre for Clinical Research (IZKF, University Hospital of Erlangen, N3 and F3). T.R. was supported by research grant DFG GRK2162/1 of the Deutsche Forschungsgemeinschaft. The study was also supported by the European Union within the 7th European Community Framework Program for Research and Technological Development through funding for the NEUROMICS network (F5-2012-305121 to L.S. and A.D.), the E-Rare Network NEUROLIPID (01GM1408B to R.S. and ANR-13-RARE-0003-02 to G.S.), and a Marie Curie International Outgoing Fellowship (grant PIOF-GA-2012-326681 to R.S. and L.S.). This work was further supported by the US National Institutes of Health (NIH) (grant 5R01NS072248 to R.S.), the German HSP-Selbsthilfegruppe e.V. (grant to R.S. and L.S.), and grants to C.B.: Project Grant from Tom Wahlig Stiftung (project 20), grant from the Stiftung für Pathobiochemie und Molekulare Diagnostik. CIMR is supported by a Wellcome Trust Strategic Award [100140] and Equipment Grant [093026]
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromosome 21q21.3 and identified bi-allelic variants in JAM2. JAM2 encodes for the junctional-adhesion-molecule-2, a key tight-junction protein in blood-brain-barrier permeability. We show that JAM2 variants lead to reduction of JAM2 mRNA expression and absence of JAM2 protein in patient's fibroblasts, consistent with a loss-of-function mechanism. We show that the human phenotype is replicated in the jam2 complete knockout mouse (jam2 KO). Furthermore, neuropathology of jam2 KO mouse showed prominent vacuolation in the cerebral cortex, thalamus, and cerebellum and particularly widespread vacuolation in the midbrain with reactive astrogliosis and neuronal density reduction. The regions of the human brain affected on neuroimaging are similar to the affected brain areas in the myorg PFBC null mouse. Along with JAM3 and OCLN, JAM2 is the third tight-junction gene in which bi-allelic variants are associated with brain calcification, suggesting that defective cell-to-cell adhesion and dysfunction of the movement of solutes through the paracellular spaces in the neurovascular unit is a key mechanism in CNS calcification
Genomic NGFB variation and multiple sclerosis in a case control study
<p>Abstract</p> <p>Background</p> <p>Nerve growth factor β (NGFB) is involved in cell proliferation and survival, and it is a mediator of the immune response. ProNGF, the precursor protein of NGFB, has been shown to induce cell death via interaction with the p75 neurotrophin receptor. In addition, this neurotrophin is differentially expressed in males and females. Hence NGFB is a good candidate to influence the course of multiple sclerosis (MS), much like in the murine model of experimental autoimmune encephalomyelitis (EAE).</p> <p>Methods</p> <p>Ten single nucleotide polymorphisms (SNPs) were genotyped in the <it>NGFB </it>gene in up to 1120 unrelated MS patients and 869 controls. Expression analyses were performed for selected MS patients in order to elucidate the possible functional relevance of the SNPs.</p> <p>Results</p> <p>Significant association of NGFB variations with MS is evident for two SNPs. <it>NGFB </it>mRNA seems to be expressed in sex- and disease progression-related manner in peripheral blood mononuclear cells.</p> <p>Conclusion</p> <p>NGFB variation and expression levels appear as modulating factors in the development of MS.</p
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