• Title/Summary/Keyword: Human genetics

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Expression and Activity of Catalases Is Differentially Affected by GpaA (Ga) and FlbA (Regulator of G Protein Signaling) in Aspergillus fumigatus

  • Shin, Kwang-Soo;Yu, Jae-Hyuk
    • Mycobiology
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    • v.41 no.3
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    • pp.145-148
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    • 2013
  • Vegetative growth signaling of the opportunistic human pathogenic fungus Aspergillus fumigatus is mediated by GpaA ($G{\alpha}$). FlbA is a regulator of G protein signaling, which attenuates GpaA-mediated growth signaling in this fungus. The flbA deletion (${\Delta}flbA$) and the constitutively active GpaA ($GpaA^{Q204L}$) mutants exhibit enhanced proliferation, precocious autolysis, and reduced asexual sporulation. In this study, we demonstrate that both mutants also show enhanced tolerance against $H_2O_2$ and their radial growth was approximately 1.6 fold higher than that of wild type (WT) in medium with 10 mM $H_2O_2$. We performed quantitative PCR (qRT-PCR) for examination of mRNA levels of three catalase encoding genes (catA, cat1, and cat2) in WT and the two mutants. According to the results, while levels of spore-specific catA mRNA were comparable among the three strains, cat1 and cat2 mRNA levels were significantly higher in the two mutants than in WT. In particular, the ${\Delta}flbA$ mutant showed significantly enhanced and prolonged expression of cat1 and precocious expression of cat2. In accordance with this result, activity of the Cat1 protein in the ${\Delta}flbA$ mutant was higher than that of $gpaA^{Q204L}$ and WT strains. For activity of the Cat2 protein, both mutants began to show enhanced activity at 48 and 72 hr of growth compared to WT. These results lead to the conclusion that GpaA activates expression and activity of cat1 and cat2, whereas FlbA plays an antagonistic role in control of catalases, leading to balanced responses to neutralizing the toxicity of reactive oxygen species.

Antimicrobial Properties of Glass Surface Functionalized with Silver-doped Terminal-alkynyl Monolayers

  • Tahir, Muhammad Nazir;Jeong, Daham;Kim, Hwanhee;Yu, Jae-Hyuk;Cho, Eunae;Jung, Seunho
    • Bulletin of the Korean Chemical Society
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    • v.35 no.1
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    • pp.39-44
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    • 2014
  • Glass discs functionalized with alkynyl (GDA) terminated monolayers were prepared and incubated in $AgNO_3$ solution (GDA-Ag). The modified functional glass surfaces were characterized by X-ray photoelectron microscopy (XPS). The potential of GDA and GDA-Ag as antimicrobial surfaces was investigated. Anti-microbial efficacies of GDA against Escherichia coli, Pseudomonas aeruginosa, Staphylococcus aureus, Bacillus cereus, and Candida albicans was relatively low ranging from 4.67 to 17.00%. However, the GDA-Ag was very effective and its antimicrobial efficacy ranged from 99.90 to 99.99% against the same set of microbial strains except for C. albicans where it was 95.50%. The durability of the Ag bonded to the terminal alkynyl groups was studied by placing the GDA-Ag in PBS buffer solution (pH 7.4) for two weeks. Initially, the silver release was relatively fast, with 40.05 ppb of silver released in first 24 h followed by a very slow and constant release. To study the potential of GDA-Ag for medical applications, in vitro cytotoxicity of GDA-Ag against Human Embryonic Kidney 293 (HEK293) cell lines was studied using WST-assay. The cytotoxicity of the GDA-Ag was very low (5%) and was almost comparable to the control (blank glass disc) indicating that GDA-Ag has a promising potential for medical applications.

Water-soluble ginseng oligosaccharides protect against scopolamine-induced cognitive impairment by functioning as an antineuroinflammatory agent

  • Xu, Ting;Shen, Xiangfeng;Yu, Huali;Sun, Lili;Lin, Weihong;Zhang, Chunxiao
    • Journal of Ginseng Research
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    • v.40 no.3
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    • pp.211-219
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    • 2016
  • Background: Panax ginseng root is used in traditional oriental medicine for human health. Its main active components such as saponins and polysaccharides have been widely evaluated for treating diseases, but secondary active components such as oligosaccharides have been rarely studied. This study aimed to assess the impact of water-soluble ginseng oligosaccharides (WGOS), which were isolated from the warm-water extract of Panax ginseng root, on scopolamine-induced cognitive impairment in mice and its antineuroinflammatory mechanisms. Methods: We investigated the impact of WGOS on scopolamine-induced cognitive impairment in mice by using Morris water maze and novel object recognition task. We also analyzed the impact of WGOS on scopolamine-induced inflammatory response (e.g., the hyperexpression of proinflammatory cytokines IL-$1{\beta}$ and IL-6 and astrocyte activation) by quantitative real-time polymerase chain reaction and glial fibrillary acid protein (GFAP) immunohistochemical staining. Results: WGOS pretreatment protected against scopolamine-induced learning and memory deficits in the Morris water maze and in the novel object recognition task. Furthermore, WGOS pretreatment downregulated scopolamine-induced hyperexpression of proinflammatory cytokines interleukin (IL)-$1{\beta}$ and IL-6 mRNA and astrocyte activation in the hippocampus. These results indicate that WGOS can protect against scopolamine-induced alterations in learning and memory and inflammatory response. Conclusion: Our data suggest that WGOS may be beneficial as a medicine or functional food supplement to treat disorders with cognitive deficits and increased inflammation.

Neurogenic potentials of human amniotic fluid-derived stem cells according to expression levels of stem cell markers and ingredients of induction medium

  • Lim, Eun Hye;Cho, Jung Ah;Park, Ho;Song, Tae Jong;Kim, Woo Young;Kim, Kye Hyun;Lee, Kyo Won
    • Journal of Genetic Medicine
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    • v.12 no.1
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    • pp.31-37
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    • 2015
  • Purpose: We investigated the neurogenic potentials of amniotic fluid-derived stem cells (AFSCs) according to the expression levels of stem cell markers and ingredients in the neural induction media. Materials and Methods: Four samples of AFSCs with different levels of Oct-4 and c-kit expression were differentiated neurally, using three kinds of induction media containing retinoic acid (RA) and/or a mixture of 3-isobutyl-1-methylxanthine/indomethacin/insulin (neuromix), and examined by immunofluorescence and reverse transcription-polymerase chain reaction (RT-PCR) for their expression of neurospecific markers. Results: The cells in neuromix-containing media displayed small nuclei and long processes that were characteristic of neural cells. RT-PCR analysis revealed that the number of neural markers showing upregulation was greater in cells cultured in the neuromix-containing media than in those cultured in RA-only medium. Neurospecific gene expression was also higher in Oct-4 and c-kit double-positive cells than in c-kit-low or -negative cells. Conclusion: The stem cell marker c-kit (rather than Oct-4) and the ingredient neuromix (rather than RA) exert greater effects on neurogenesis of AFSCs.

A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report

  • Choi, Youn Young;Woo, Min Hyung;Kim, Gi Beom;Song, Mi Kyoung;Lee, Sang Yoon;Bae, Eun Jung;Choi, Murim;Kim, Young-Sook
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.20-23
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    • 2018
  • Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

  • Kwon, Soonhak;Park, Jin-Sung;Jung, Jae Hun;Hwang, Su Kyeong;Kim, Yeo Hyang;Lee, Yun Jeong
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.28-33
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    • 2018
  • Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

Application of Photostimulated Luminescence to Detection of Irradiated Foods (광자극발광기의 방사선 조사 식품 검지에의 활용)

  • Hwang, Keum-Taek;Uhm, Tai-Boong;Wagner, Ute;Schreiber, Georg A.
    • Korean Journal of Food Science and Technology
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    • v.30 no.3
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    • pp.498-501
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    • 1998
  • It was determined whether photostimulated luminescence (PSL) is applicable to the detection of post-irradiation of foods by measuring PSL photon counts for unirradiated and irradiated pepper powder, dried herbs, fresh shrimp, potato, soybean, dried fig, chestnut, dried squid, and dried cod. The samples were irradiated with $^{60}Co\;{\gamma}-ray$ source and PSL photon counts were measured for them. The photon counts of unirradiated samples were lower than 2,000 for potatoes and less than 1,000 for the others. The photon counts of the irradiated samples except dried figs (0.5 kGy), chestnuts (0.2 kGy), and dried squid (0.5 kGy) were higher than 1,000, and the photon counts increased with dose. Thus, PSL might be applied to the primary detection of irradiated foods.

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Hydrocarbons Detected in Irradiated Soybeans (방사선 조사한 대두에서 검출되는 Hydrocarbon류)

  • Hwang, Keum-Taek;Park, Jun-Young;Kwon, Yong-Ju
    • Korean Journal of Food Science and Technology
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    • v.30 no.3
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    • pp.517-522
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    • 1998
  • Hydrocarbons in soybeans were analyzed to determine whether the hydrocarbons can be applied for detecting post-irradiation of soybeans. Yellow and green soybeans were irradiated at 0.5, 1, 3, and 6 kGy. Fats were extracted with hexane and then hydrocarbons were separated from the fat through Florisil column. The hydrocarbons were analyzed with GC. Hydrocarbons 17:2, 16:3, 17:1, and 16:2 were detected in the samples irradiated at 0.5 kGy or higher, but not in the unirradiated ones. The detection levels of hydrocarbons increased with the dose of the irradiation. When unirradiated or irradiated soybeans were roasted or boiled, these hydrocarbons were detected in the samples irradiated at 1 kGy or higher, but not in the unirradiated ones. A blind test confirmed that the hydrocarbon determining method could detect the soybeans irradiated at 1 kGy.

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The effect of vitamin C on the gene expression profile of sperm protamines in the male partners of couples with recurrent pregnancy loss: A randomized clinical trial

  • Hamidian, Saeideh;Talebi, Ali Reza;Fesahat, Farzaneh;Bayat, Mohammad;Mirjalili, Ali Mohammad;Ashrafzadeh, Hamid Reza;Rajabi, Mahya;Montazeri, Fateme;Babaei, Saeid
    • Clinical and Experimental Reproductive Medicine
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    • v.47 no.1
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    • pp.68-76
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    • 2020
  • Objective: Since sperm abnormalities are known to be a major reason for recurrent pregnancy loss (RPL), any defects in DNA structure and chromatin condensation can place embryos at risk in the early stage of development and implantation. As antioxidants such as vitamin C may play a protective role against the destruction of protamine genes in sperm chromatin, this study was conducted to evaluate the effects of vitamin C on chromatin and the expression of protamine genes in the male partners of couples with RPL. Methods: Twenty male partners of couples with RPL were selected as the intervention group and received vitamin C supplementation (250 mg daily for 3 months). Healthy fertile men (n = 20) were included as controls. Sperm chromatin, DNA integrity, and the expression levels of protamine genes were evaluated before and after treatment. Results: Significant differences were found in sperm morphology, protamine deficiency, and apoptosis between the two groups and before and after vitamin C administration. A significant change was found in mRNA levels of PRM1, PRM2, and the PRM1/PRM2 ratio after treatment. Conclusion: Daily oral administration of vitamin C may improve human sperm parameters and DNA integrity by increasing protamine gene expression levels in the male partners of couples with RPL. The beneficial effects of vitamin C supplementation as an antioxidant for the male partners of couples with RPL could lead to improved pregnancy outcomes in these cases.

The Researches on the Korean Population Genetics: Studies on the frequencies and distributions of some human enzyme deficient traits

  • Lee, Chung-Choo
    • The Korean Journal of Zoology
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    • v.17 no.4
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    • pp.145-158
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    • 1974
  • The present paper is concerned with the frequencies of G-6-PD deficiency acetylator phenotypes, hypocatalasemia and acatalasemia among Korean populations. The examination was carried out in the rural (Kyodong island, Moonmak Myeon and Yangyang Eup)and urban (Seoul) areas. The average frequency of G-6-PD deficiency in the total male population was 1.33%. A significant difference was observed among four areas. Tests on the color-blindness were performed in order to compara the two populations(Kyodong island and Seoul) and to obtain relationship between the color-blindness and G-6-PD deficiency. The frequency of color-blindness was 5.76% in the male rural population, and this rate was nearly consistant with that of the urban. The frequencies of the slow acetylator phenotype were 12.96% in Kyodong island, 10.36% in Seoul and 11.05% in Moonmak Myeon. Of the 3,004 persons investigated, no one has acatalasemia, but 10 cases of hypocatalasemia were found. The overall frequency was 0.33% which is slightly different from one area to another; 0.29% in Seoul, 0.27% in Kyodong island, and 1.15% in Moonmak Myeon.

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