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Biomedical subjects

F Matsuda

Publications and source records attributed to F Matsuda.

At least 19 recordsLinked to original sources
PubMed2006

Exhaustive genotyping of the interferon alpha receptor 1 (IFNAR1) gene and association of an IFNAR1 protein variant with AIDS progression or susceptibility to HIV-1 infection in a French AIDS cohort.

We have undertaken a systematic genomic approach in order to explore the role of the interferon alpha (IFN-alpha) pathway in AIDS disease development. As it is very difficult to genotype the IFN-alpha gene itself since it has many pseudo-genes, we have focused our interest on the genetic polymorphisms of the IFN-alpha receptor 1 (IFNAR1). We genotyped the Genetics of Resistance to Immunodeficiency Virus (GRIV) cohort composed of patients with extreme profiles of progression to AIDS, slow progressors (SP) and rapid progressors (RP), as well as seronegative controls (CTR). We identified 19 single nucleotide polymorphisms (SNPs) with a minor allele frequency (MAF) greater than 1% among which two were newly characterized by our study. We found putative associations with AIDS disease development for four SNP alleles and for three haplotypes. The most interesting signals were found for two SNPs in linkage disequilibrium, the SNP IFNAR1_18339 corresponding to a Val168Leu mutation in the extracellular domain of the protein and the intronic SNP, IFNAR1_30127. The intronic SNP IFNAR1_30127 yielded a strong signal both when comparing SP with CTR (P=0.002) and RP with CTR (P=0.005) while IFNAR1_18339 yielded a smaller signal because less patients were analyzed; these SNPs could thus be involved in AIDS progression or in susceptibility to human immunodeficiency virus 1 (HIV-1) infection. Interestingly, two independent studies have previously pointed out the SNP IFNAR1_18339 in susceptibility to multiple sclerosis and to malaria. This is the first work investigating the polymorphisms of the IFNAR1 gene in AIDS. Our results which point out a possible role for the IFN-alpha pathway in susceptibility to HIV-1 infection or progression to AIDS need a necessary confirmation by genomic studies in other AIDS cohorts.

Acquired Immunodeficiency Syndrome↗
PubMed2004

Genomic analysis of Fas and FasL genes and absence of correlation with disease progression in AIDS.

Apoptosis has been suggested as a major mechanism for the CD4(+) T-lymphocyte depletion observed in patients infected with human immunodeficiency virus 1 (HIV-1). To evaluate the impact of genetic variations to apoptosis during progression of acquired immunodeficiency syndrome (AIDS), we have performed an extensive genetic analysis of Fas and Fas ligand ( FasL) genes. The coding regions and promoters of these genes were resequenced in a cohort of 212 HIV-1-seropositive patients presenting extreme disease phenotypes and 155 healthy controls of Caucasian origin. Overall, 33 single nucleotide polymorphisms (SNPs) with an allele frequency >1% were identified and evaluated for their association with disease progression. Among them, 14 polymorphisms were newly characterized. We did not find any statistically significant association of Fas and FasL polymorphisms and haplotypes with AIDS progression.

Acquired Immunodeficiency Syndrome↗
PubMed2004

Roles of major oligosaccharides on Cry j 1 in human immunoglobulin E and T cell responses.

BACKGROUND: We have demonstrated that carbohydrates in Cry j 1, the major allergen of Cryptomeria japonica pollen, play a major role in promoting Cry j 1-specific Th2 response. However, little is known as to whether the carbohydrates directly participate in allergic responses. OBJECTIVE: We sought to determine whether Cry j 1-related oligosaccharides function as IgE and/or T cell epitopes. In addition, the regulatory effect of Cry j 1-related oligosaccharide on Cry j 1-specific T cell responses was investigated. METHODS: Two monovalent oligosaccharides largely found on Cry j 1, Manalpha1-6(Manalpha1-3)(Xylbeta1-2)Manbeta1-4GlcNAcbeta1-4(Fucalpha1-3)GlcNAc (M3FX), and GlcNAcbeta1-2Manalpha1-6(GlcNAcbeta1-2Manalpha1-3)(Xylbeta1-2)Manbeta1-4GlcNAcbeta1-4(Fucalpha1-3)GlcNAc (GN2M3FX) were prepared. Manalpha1-2Manalpha1-6(Manalpha1-2Manalpha1-3)Manalpha1-6(Manalpha1-2Manalpha1-2Manalpha1-3)Manbeta1-4GlcNAcbeta1-4GlcNAc (M9A) was used as control. Competitive inhibition ELISA for Cry j 1-specific IgE was performed using these oligosaccharides as inhibitors. In addition, T cell lines specific for Cry j 1 or purified protein derivative of Mycobacterium tubecurosis (PPD) were established, and cellular responses against these oligosaccharides were investigated in the presence or absence of the respective antigens. RESULTS: Overall, neither M3FX nor GN2M3FX displayed inhibitory effect on the binding between IgE and Cry j 1. In addition, M3FX did not by itself stimulate Cry j 1 or PPD-specific T cells. However, M3FX significantly inhibited Cry j 1-induced proliferation and IL-4 production in Cry j 1-specific T cells. Such an inhibitory effect was not seen in PPD-specific T cell responses. CONCLUSION: These results suggest that Cry j 1-related oligosaccharides are not major epitopes for IgE or T cells. However, these oligosaccharides have a novel potential to inhibit Cry j 1-specific T cell responses selectively.

Adolescent↗
PubMed2003

Recombinant monoclonal thyrotropin-stimulation blocking antibody (TSBAb) established from peripheral lymphocytes of a hypothyroid patient with primary myxedema.

Anti-TSH receptor antibodies (TRAbs) have been known to be involved in Graves' disease and primary hypothyroidism. We previously isolated and reconstituted immunoglobulin (Ig) genes of Epstein-Barr virus-transformed B cell clones producing monoclonal TRAbs obtained from Graves' patients. In the present study, we performed a similar experiment using a B cell clone, 32A-5, derived from a patient with primary hypothyroidism. The variable region genes of Ig heavy (H) and light (L) chains were isolated and sequenced from the 32A-5 clone. A significant number of somatic mutations were found in variable regions of H and L chain gene segments. Each pair of H and L chain cDNAs was ligated into an expression vector for IgG1 production and stably introduced into myeloma cells. The transfectants were injected ip into BALB/c mice to yield ample volume of the antibody for following applications. Interactions of recombinant 32A-5 with Graves' sera with varying thyroid-stimulating antibody (TSAb) activities were studied. The recombinant antibody tended to suppress TSAb activities in 10 of 15 Graves' sera, in which four were significantly inhibited. In summary, this is the first study to analyze human monoclonal TSH-stimulation blocking antibodies (TSBAb) at the molecular level. Use of human recombinant monoclonal TSBAb may be an analytical tool for molecular-basis etiology and an alternative therapeutic path for Graves' disease.

Animals↗
PubMed2003

Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10 haplotypes associated with the disease progression.

Polymorphisms of Th1-Th2 cytokine genes have previously been implicated in the rate of progression to AIDS in seropositive patients. To evaluate further the impact of these genes in the development of AIDS, we have performed an extensive genetic analysis of IL2, IL4, IL6, IL10, IL12p35 and p40, IL13 and IFNgamma. The coding regions and promoters of these genes were sequenced in a Caucasian cohort of 337 HIV-1 seropositive extreme patients (the GRIV cohort) consisting of patients with slow progression and rapid progression, and up to 470 healthy controls. In all, 64 single nucleotide polymorphisms (SNPs) and four deleterious polymorphisms with frequency >1% were identified and evaluated for their association with disease. Statistically significant associations were observed with haplotypes of the IL4 and IL10 genes, but no relation was found with variants of other genes. The catalogue of SNP and haplotypes presented here will facilitate further genetic investigations of Th1-Th2 cytokines in AIDS and other immune-related disorders.

Acquired Immunodeficiency Syndrome↗
PubMed2002

[Human infertility: meiotic genes as potential candidates].

Up to now, the identification of gene mutations causing infertility in humans remains poorly investigated. Temporal progression through meiosis and meiosis specific genes had been extensively characterized in yeast. Recently some mammalian homologous were found. The molecular mechanisms regulating entry into and progression through meiosis in mammals are still unknown. However, disruption of some meiotic genes in mouse showed an essential role of them in meiotic chromosome synapsis and gametogenesis. Moreover, the phenotype of gonads in null mutant mice for some meiotic genes (failure to initiate or blockage in meiosis, lack of gametes or small size of gonads...) could be strikingly similar to clinical observations found in human infertility. The aim of this study was to identify putative mutations in 5 meiotic genes of several clinically well-characterized patients who present unexplained infertility (normal karyotype, women with premature ovarian failure, men with azospermia and without Y micro-deletion). For this purpose, the exons of these 5 genes (DMC1, SPO11, MSH4, MSH5, CCNA1) were all amplified by PCR with specific primers and each amplified-exon was sequenced. Sequences were aligned in comparison to the human corresponding gene available in Genbank. Many heterozygous mutations were found in different genes. Two homozygous mutations were found in MSH4 and DMC1 genes in a young man presenting a testis vanishing syndrome and a woman presenting a premature ovarian failure, respectively. Consequences of such mutations will be examined and verified in model organisms (yeast, mouse) to check the relevance of the mutations in clinical setting.

Adenosine Triphosphatases↗
PubMed2001

A physical map of human chromosome 14.

We report the construction of a tiling path of around 650 clones covering more than 99% of human chromosome 14. Clone overlap information to assemble the map was derived by comparing fully sequenced clones with a database of clone end sequences (sequence tag connector strategy). We selected homogeneously distributed seed points using an auxiliary high-resolution radiation hybrid map comprising 1,895 distinct positions. The high long-range continuity and low redundancy of the tiling path indicates that the sequence tag connector approach compares favourably with alternative mapping strategies.

Chromosomes, Artificial, Bacterial↗
PubMed2001

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia. A locus (BSCL1) has been mapped to 9q34 with evidence of heterogeneity. Here, we report a genome screen of nine BSCL families from two geographical clusters (in Lebanon and Norway). We identified a new disease locus, designated BSCL2, within the 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13. Analysis of 20 additional families of various ethnic origins led to the identification of 11 families in which the disease cosegregates with the 11q13 locus; the remaining families provide confirmation of linkage to 9q34. Sequence analysis of genes located in the 11q13 interval disclosed mutations in a gene homologous to the murine guanine nucleotide-binding protein (G protein), gamma3-linked gene (Gng3lg) in all BSCL2-linked families. BSCL2 is most highly expressed in brain and testis and encodes a protein (which we have called seipin) of unknown function. Most of the variants are null mutations and probably result in a severe disruption of the protein. These findings are of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.

Acanthosis Nigricans↗
PubMed2001

Neurinoma of the greater superficial petrosal nerve developed acute facial palsy: case report and review of the literature.

The authors report on a patient with a greater superficial petrosal nerve neurinoma. The patient developed severe acute facial palsy and the palsy improved soon after removal of the tumor. We review of the literature and describe its rarity and surgical treatment with regard to other facial nerve neurinomas originating from the main trunk of the facial nerve.

Case Reports↗
PubMed2001

Passage of dextran magnetite nanoparticles through the subcupular space of the pigeon.

We examined the permeability of the subcupular space for endolymph flow in the pigeon. A new technique was developed in which nanoparticles consisting of dextran magnetite were attracted by use of a magnet, instead of injecting a dye solution. The method was revealed to prevent an excess pressure application by the injection of dye solution. The Berlin blue color resulting from the dextran magnetite nanoparticles was found mainly within the subcupular space contacting with the sensory hairs. Further formation of the Berlin blue was found within the sensory cells. The result supports the idea that the fluid passes through the subcupular space.

Animals↗
PubMed2001

Cupular response and functional anatomy to pressure application in the pigeon.

In this study, horizontal semicircular canal of the pigeon was inserted with a microfill, 164 micrometers in outer diameter, to gauge the pressure change in the canal and to clarify two things. One is whether the endolymph passes through the crista ampullaris or not. The other is as to the space where the endolymph passes through in the crista ampullaris if the endolymph goes through the crista. The pressure applications were performed by using Evans blue solution and as a result three pressure groups, i.e., 1) high, 2) moderate and 3) low were discriminated. Our results suggest that the endolymphatic fluid passes through the subcupular space or the top of the crista ampullaris when the pressure is enough small like the head rotates in daily life. Accordingly we present a new hypothesis as to the functional anatomy of the cupula in contrast to current hypotheses e.g. drum membrane or revolving door.

Animals↗
PubMed2000

Determination of genes involved in the process of implantation: application of GeneChip to scan 6500 genes.

Using the high-density arrays of oligonucleotides (GeneChip) technology, the expression of uterine genes was examined before and after conceptus implantation in mice. Of the 6500 genes analyzed, levels of 399 gene expressions changed; 192 genes increased levels of expression while the remaining 207 genes declined. The findings suggest that both gene activation and deactivation (suppression) are required for successful implantation.

Animals↗
PubMed2000

Hydroxy-Directed, SmI(2)-Induced Conversion of Carbohydrates into Carbocycles.

Polyoxygenated six-membered carbocycles were derived from carbohydrates with complete stereocontrol through hydroxy-directed coupling cyclization induced by SmI(2). For example, the cis-1,3-cyclohexanediol 3 is obtained from the D-glucopyranoside derivative 1 in excellent yield. The coupling cyclization is initiated by single-electron transfer from SmI(2) to the formyl group of the delta-hydroxy aldehyde 2 generated in an equilibrium process.

Journal Article↗
PubMed2000

Comparative effect of amrinone, aminophylline and diltiazem on rat airway smooth muscle.

We investigated the effect of amrinone, a phosphodiesterase III inhibitor, on rat airway smooth muscle, and thereafter, compared its activity with aminophylline and diltiazem. Amrinone produced relaxation of the acetylcholine-induced airway contraction in a dose-related manner. This bronchodilatory activity of amrinone was similar to that of aminophylline, but smaller than that of diltiazem. The 50% relaxant effect (ED50) of amrinone, aminophylline and diltiazem were 3.6 x 10(-4) M, 1.4 x 10(-4) M and 1.4 x 10(-5) M, respectively. Diltiazem was the most potent airway relaxant, and amrinone was less potent in these experiments. Taken together in its positive inotropic and chronotropic effects and anti-inflammatory activity, however, amrinone could be beneficial for treatment of patients suffering from asthma or heart failure with cardiac asthma.

Acetylcholine↗
PubMed2000

Absolute structure of N-p-coumaroyloctopamine in elicitor-treated potato tuber tissue.

Treatment of potato tuber tissue with beta-1,3-oligoglucosaccharide causes an accumulation of N-p-coumaroyloctopamine (1). In order to determine the absolute structure of 1 in potato, optically active 1 was synthesized from (R)-octopamine which had been obtained from the racemic mixture by the fractional crystallization. By comparing the chromatographic behavior of synthetic and naturally-occurring samples with a chiral HPLC analysis, the absolute configuration of 1 in potato was determined to be S. This indicates that the absolute configuration of the octopamine moiety of 1 is opposite to that of octopamine formed in animal tissues.

Coumaric Acids↗
PubMed2000

The tau and anti-tau effects in successively presented stimuli.

It was confirmed by the reproduction method with 20 adults that (a) the tau effect, i.e., the greater the temporal separation between successively presented stimuli with a constant spatial interval, the greater the apparent spatial interval, occurred, especially in the situation in which the participants were assumed to form a set easily using temporal interval as the cue for spatial interval estimation, and (b) the anti-tau effect occurred in the special situation in which the participants were assumed to form a set using speed of an imaginary movement as the cue for it. These findings supported the hypothesis of "cue-selection sets."

Adolescent↗
PubMed2000

Preschoolers' knowledge about strategies in coping with other's disgust evoked by immoral actions.

40 preschoolers in Exp. 1 and 22 in Exp. 2 (mean ages were both 5:11) were shown short stories presented as colored videotaped pictures with explanatory narrations. In each story a recipient felt disgusted by an agent's action. In Exp. 1 the agent's action was immoral. The participants were asked to tell how the agent would behave, supposing they were the agent themselves. About 80% of their answers were prosocial. In Exp. 2, two kinds of story were shown. In one, the agent hurt the recipient intentionally; in the other, by accident. Almost all answers in both kinds of story were prosocial. Furthermore, over a third of the participants told the reasons for their answers, considering the recipient's emotion, even when the agent's action was intentional and immoral. These findings show that the preschoolers had suitable knowledge about the agent's strategies in coping with the recipient's disgust.

Adaptation, Psychological↗