Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022104 (irritable bowel syndrome)
 8,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of the present study was to determine whether DNA vaccination by co-administration of DNA coding for chicken interferon-gamma (IFN-gamma) gene and DNA encoding for the VP243 gene of IBDV could enhance immune response and protection efficacy of chickens against challenge by IBDV. Plasmids carrying VP243 gene of IBDV strain variant E (VE) (P/VP243/E) and chicken IFN-gamma gene (P/cIFN-gamma) were constructed, respectively. One-day-old chickens were intramuscularly injected with P/VP243/E, or P/cIFN-gamma, or both once, twice, or three times into the thigh muscle of one leg or the thigh muscles of two separate legs at weekly intervals. Chickens were orally challenged with IBDV strain VE at 3 weeks of age and observed for 10 days. Chickens receiving two plasmids in the same site two times had significantly higher (P<0.05) bursal lesion scores and significantly lower (P<0.05) bursa weight/body weight ratios than those that only received P/VP243/E two or three times. Chickens inoculated with two plasmids separately in the thigh muscles of different legs or P/VP243/E two times had 33-50% protection and those receiving two plasmids in the same sites did not have any protection against IBD. The enzyme-linked immunosorbent assay (ELISA) and virus neutralization (VN) titers to IBDV of chickens in the groups with three doses of P/VP243/E were significantly higher (P<0.05) than those in groups receiving two doses of P/VP243/E or P/VP243/E and P/cIFN-gamma. Chickens protected by DNA vaccination did not have detectable IBDV antigen in the bursae as determined by immunofluorescent antibody assay (IFA). The results indicated that co-administration of plasmid encoding chicken IFN-gamma gene with plasmid encoding a large segment gene of the IBDV did not enhance immune response and protection against challenge by IBDV.
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PMID:The effect of co-administration of DNA carrying chicken interferon-gamma gene on protection of chickens against infectious bursal disease by DNA-mediated vaccination. 1705 43

The present study was undertaken to characterize recent field isolates of infectious bursal disease virus (IBDV) by reverse transcription-polymerase chain reaction (RT-PCR) and partial sequencing of VP2 gene. The virus could be detected in 17 of 20 field samples from broiler chickens in Haryana state, India as well as in all the four vaccine strains. Nucleotide sequences of four field isolates and one vaccine strain were compared with 10 reported IBDV strains from different parts of the world. Nucleotide substitutions at 795G, 827T, 833C, 857C, 897A, 905T, 908T, 1011A and 1094G specific for very virulent (vv) strains, were maintained in all the four field isolates. However, unique nucleotide substitutions at 806A-G, 851 C-T, 1010 T-C, 1019T-C and 1082T-C showed further divergence of these isolates from already reported vvIBDVs. Deduced amino acid substitutions at 222P-A, 256V-I, 279N-D, 294L-I and 299N-S specific for vvIBDV strains were also present in all the four isolates. The vaccine strain showed amino acid change 279D-N, a characteristic of attenuated vaccine strains. Phylogenetic analysis showed that all the field isolates in the present study were closely related to reported UK (UK661) and Japan (OKYM) field isolates. All the four field IBDV strains of the present study were closely related to each other but distinct from already reported vvIBDVs of India. On the basis of nucleotide sequencing and phylogenetic analysis, it is very likely that IBD causing strains in this part of India are of very virulent character and are still undergoing changes at genetic level.
DNA Seq 2006 Dec
PMID:Molecular characterization of Indian isolates of infectious bursal disease virus from broiler chickens. 1738 Oct 44

The present study, including seven trials, was conducted to determine if priming with DNA carrying a large segment gene of the IBDV and boosting with killed IBD vaccine could adequately confer protection of specific pathogen free (SPF) chickens against IBD. One-day-old chickens were intramuscularly injected with DNA plasmid coding for the large segment gene of the IBDV strain variant E (VE) (P/VP243/E) followed by an intramuscular injection of killed IBD vaccine containing both standard and variant IBDV at 1 or 2 weeks of age. Chickens were orally challenged with IBDV strain VE or standard challenge strain (STC) at 3 weeks of age. Chickens primed with 50, 100, 200, or 400mug of P/VP243/E at 1 day of age and boosted with 0.5ml of killed IBD vaccine at 1 or 2 weeks of age had 80-100% protection against challenge by IBDV strain VE or 71-100% protection against challenge by IBDV strain STC. Protected chickens had higher (P<0.05) B/B ratios and lower (P<0.05) bursal lesion scores than chickens in the challenge control (CC) groups and groups primed with saline or vector plasmid and boosted with killed IBD vaccine. No IBDV antigen was detected by immunofluorescent antibody assay (IFA) in bursae of chickens protected by the DNA vaccine prime and killed vaccine boost vaccination. Prior to challenge, chickens (21 days of age) in the groups primed with P/VP243/E and boosted with killed IBD vaccine had higher (P<0.05) ELISA and VN titers to IBDV and lymphoproliferation stimulation indices. These results indicate that a prime-boost approach by priming with DNA vaccine encoding the large segment gene of the IBDV and boosting with killed IBD vaccine can adequately protect SPF chickens against challenge by homologous or heterologous IBDV.
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PMID:Priming with DNA vaccine and boosting with killed vaccine conferring protection of chickens against infectious bursal disease. 1756 15

A pharmacogenetic study suggests the 5-HTT LPR polymorphism predicts response to alosetron, and another study describes a possible association of the GNbeta3 C825T polymorphism with IBS in patients with dyspepsia. We performed a case-control association study to determine whether these polymorphisms are associated with irritable bowel syndrome (IBS). The study aim was to compare allele and genotype frequencies between cases and controls for the 5-HTT LPR and the GNbeta3 C825T polymorphism. Cases were 50 GI outpatients; controls were 53 General Medicine outpatients matched to cases for age, gender and race at a major medical centre. Participants completed a questionnaire and donated blood. DNA was genotyped using polymerase chain reaction based assays. Eighty-two per cent of cases met Rome II criteria for IBS: 12% constipation-, 46% diarrhoea-, and 42% mixed-IBS. Genotype and allele frequencies for both polymorphisms did not differ between cases and controls. However, the allele frequency of the short (S) allele of the 5-HTT LPR polymorphism was greater in those with mixed-IBS compared with controls (68%vs 45%, P < 0.05). This study suggests that the 5-HTT LPR polymorphism may be associated with mixed-IBS, but not IBS overall. No association was observed for the GNbeta3 C825T polymorphism with IBS overall or subtypes.
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PMID:A genetic association study of 5-HTT LPR and GNbeta3 C825T polymorphisms with irritable bowel syndrome. 1756 28

Estimates of the average distances by which marine larvae disperse are generally poorly described, despite the central role that larval dispersal plays in the demographic connectivity of populations across geographic space. Here, we describe the population genetic structure and average dispersal distance of the netted dog whelk Nassarius reticulatus (L.) (Mollusca, Gastropoda, Prosobranchia), a widespread member of European intertidal communities, using DNA sequence variation in a fragment of the mitochondrial gene cytochrome c oxidase subunit I (COI). An analysis of 156 individuals from 6 locations spread across approximately 1700 km of the European Atlantic coastline revealed weak and nonsignificant population structure (overall Phi(ST) = 0.00013). However, pairwise Phi(ST) values revealed a slight but significant increase in genetic isolation with geographic distance (IBD), suggesting that populations are not panmictic across the sampled geographic range. If we assume that the isolation by distance is maintained by a stable, stepping stone model of gene flow, then the slope of the IBD is consistent with an average larval dispersal distance of approximately 70 km per generation. The spatial scale of larval dispersal in N. reticulatus is consistent with the life cycle of the species (planktotrophic veliger lasting 30-60 days before competent to settle). A mismatch analysis of the COI sequences revealed a signature of an ancient demographic expansion that began 61 500-160,000 years ago, well before the most recent Pleistocene glaciation event. The greatest levels of genetic diversity occur within the middle latitudes of the whelk's geographic range, consistent with the notion that historic populations of N. reticulatus might have expanded northward and southward from the centrally located Bay of Biscay.
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PMID:Genetic isolation by distance among populations of the netted dog whelk Nassarius reticulatus (L.) along the European Atlantic coastline. 1772 74

Advances in genetics and genomics during the past decade, including sequencing of the human genome and DNA sequencing technologies, have made it possible to discover the genetic basis for many diseases. With the discovery of multiple genetic loci for gastrointestinal diseases such as Crohn's disease, some have begun to wonder-Could there be a genetic basis for irritable bowel syndrome (IBS)? This article summarizes the evidence for and against a link between genes and IBS. In addition, a gene-environment paradigm is presented to combine the two opposing hypotheses, as IBS may represent a complex genetic disorder that results from the interaction of several genes and environmental risk factors.
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PMID:Genes and irritable bowel syndrome: is there a link? 1862 46

The SCN5A-encoded Na(v)1.5 Na(+) channel is expressed in interstitial cells of Cajal and smooth muscle in the circular layer of the human intestine. Patients with mutations in SCN5A are more likely to report gastrointestinal symptoms, especially abdominal pain. Twin and family studies of irritable bowel syndrome (IBS) suggest a genetic basis for IBS, but no genes have been identified to date. Therefore, our aims were to evaluate SCN5A as a candidate gene involved in the pathogenesis of IBS and to determine physiological consequences of identified mutations. Mutational analysis was performed on genomic DNA obtained from 49 subjects diagnosed with IBS who reported at least moderately severe abdominal pain. One patient hosted a loss-of-function missense mutation, G298S, that was not observed in >3,000 reference alleles derived from 1,500 healthy control subjects. Na(+) currents were recorded from the four common human SCN5A transcripts in transfected HEK-293 cells. Comparing Na(v)1.5 with G298S-SCN5A versus wild type in HEK cells, Na(+) current density was significantly less by 49-77%, and channel activation time was delayed in backgrounds that also contained the common H558R polymorphism. Single-channel measurements showed no change in Na(v)1.5 conductance. Mechanosensitivity was reduced in the H558/Q1077del transcript but not in the other three backgrounds. In conclusion, the G298S-SCN5A missense mutation caused a marked reduction of whole cell Na(+) current and loss of function of Na(v)1.5, suggesting SCN5A as a candidate gene in the pathophysiology of IBS.
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PMID:Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy. 1905 59

Nerve, muscle, and inflammatory cells involved in gastrointestinal (GI) function have high-energy requirements and are affected in mitochondrial disorders. Familial aggregation of irritable bowel syndrome (IBS) frequently involves mothers and their children. Since mitochondrial DNA (mtDNA) is maternally inherited, mtDNA single nucleotide polymorphisms (SNPs) could confer risk to the development of IBS. The mtDNA SNPs, 16519C>T and 3010G>A, are associated with migraine and childhood cyclic vomiting syndrome. Our hypothesis is that these mtDNA SNPs are associated with functional GI disorders (FGIDs) and GI functions. The mt genome was first tested for the 7028C polymorphism (defining haplogroup H) in 699 patients or controls, and those with 7028C were further genotyped at 16519 and 3010. Phenotypes were based on symptoms (validated questionnaires and criteria) and GI physiology using validated motor and sensory studies. Constipation-predominant IBS and alternating constipation and diarrhea IBS are less prevalent in individuals with the 7028C mtDNA polymorphism than in individuals with 7028T. Conversely, 7028C is associated with higher maximum tolerated volume (lower satiation) compared with 7028T. Among those with 7028C, nonspecific abdominal pain (chronic abdominal pain or dyspepsia) was significantly associated with 3010A compared with 3010G (odds ratio 3.3, P=0.02), and slower gastric emptying was statistically associated with 3010G. There were no significant associations of mtDNA genotypes tested and stomach volumes, small bowel or colonic transit, rectal compliance, and motor or sensory functions. Thus variation in mtDNA may be associated with satiation, gastric emptying, and possibly pain; further studies of mtDNA in appetite regulation and larger numbers of patients with FGIDs are warranted.
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PMID:Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders. 1914 1

Autozygosity mapping in consanguineous families has proven to be a powerful method for identifying recessive disease genes. Using this technique with whole genome SNP data generated from low density mapping arrays, we previously identified two genes that underlie autosomal recessive woolly hair (ARWH/hypotrichosis; OMIM278150), specifically P2RY5 and Lipase H (LIPH). In the current study, we sought to identify a novel disease locus for ARWH/hypotrichosis by analyzing two large consanguineous families from Pakistan who had initially been excluded for mutations at either of these disease loci by haplotype analysis with microsatellite markers. A genome-wide analysis of 10 members from each of the two families failed to identify significant regions of autozygosity or linkage. Upon genotyping an additional 10 family members in one of the families, parametric linkage analysis identified a region on chromosome 3q27 with evidence for linkage (Z = 2.5). Surprisingly, this region contains the LIPH gene. Microsatellite markers located within the LIPH gene were used for haplotype analysis and demonstrated that not one, but two haplotypes were segregating with the phenotype in each of these families. DNA sequencing identified two distinct LIPH mutations (280_369dup90 and 659_660delTA). Each affected individual (n = 38) was either homozygous for one mutation (n = 7 and 16 respectively), or compound heterozygous (n = 15). A review of the literature identified several reports of compound heterozygotes in consanguineous families. Prompted by this finding, we derived the probability that a patient affected with a recessive disease is carrying two mutations at the disease locus. We suggest that the validity of the IBD assumption may be challenged in large consanguineous families.
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PMID:The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. 1936 38

The aim of this study was to examine the efficacy of in ovo prime-boost vaccination against infectious bursal disease virus (IBDV) using a DNA vaccine to prime in ovo followed by a killed-vaccine boost post hatching. In addition, the adjuvant effects of plasmid-encoded chicken interleukin-2 and chicken interferon-gamma were tested in conjunction with the vaccine. A plasmid DNA vaccine (pcDNA-VP243) encoding the VP2, VP4, and VP3 proteins of the very virulent IBDV (vvIBDV) SH/92 strain was injected into the amniotic sac alone or in combination with a plasmid encoding chicken IL-2 (ChIL-2) or chicken IFN-gamma (ChIFN-gamma) at embryonation day 18, followed by an intramuscular injection of a commercial killed IBD vaccine at 1 week of age. The chickens were orally challenged with the vvIBDV SH/92 strain at 3 weeks of age and observed for 10 days. In ovo DNA immunization followed by a killedvaccine boost provided significantly better immunity than the other options. No mortality was observed in this group after a challenge with the vvIBDV. The prime-boost strategy was moderately effective against bursal damage, which was measured by the bursa weight/body weight ratio, the presence of IBDV RNA, and the bursal lesion score. In ovo DNA vaccination with no boost did not provide sufficient immunity, and the addition of ChIL-2 or ChIFN-gamma did not enhance protective immunity. In the ConA-induced lymphocyte proliferation assay of peripheral blood lymphocyte collected 10 days post-challenge, there was greater proliferation responses in the DNA vaccine plus boost and DNA vaccine with ChIL-2 plus boost groups compared to the other groups. These findings suggest that priming with DNA vaccine and boosting with killed vaccine is an effective strategy for protecting chickens against vvIBDV.
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PMID:Protection of chicken against very virulent IBDV provided by in ovo priming with DNA vaccine and boosting with killed vaccine and the adjuvant effects of plasmid-encoded chicken interleukin-2 and interferon-gamma. 1946 Dec 8


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