• Title/Summary/Keyword: LIM gene

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Clinical Phenotypes and Dietary Management of Hepatic Glycogen Storage Disease Type 0 (간 0형 당원축적병의 임상 표현형과 식사관리)

  • Young-Lim Shin
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.23 no.2
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    • pp.8-14
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    • 2023
  • The hepatic glycogen storage disease type 0 (GSD type 0) is an autosomal recessive disorder caused by a deficiency of hepatic glycogen synthase encoded by the glycogen synthase 2 (GYS2) gene, leading to abnormal synthesis glycogen. The clinical findings of GSD type 0 are hyperketotic hypoglycemia at fasting state and accompanying postprandial hyperglycemia and hyperlactatemia. GSD type 0 has only been reported in a very small number so far, and the diagnosis is likely to be missed because symptoms are mild, severe hypoglycemia is rare or asymptomatic, or symptoms gradually disappear with age. Essential management strategies include feeding high-protein meals to stimulate gluconeogenesis, frequent meals to prevent hypoglycemia during the day and feeding complex carbohydrates such as uncooked cornstarch to slowly release glucose during nignt. GSD type 0 has a good prognosis, with appropriate treatment, normal growth can be achieved and no complications occur. Significant hypoglycemia occurs less common in adulthood, but ongoing dietary management may be necessary.

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Molecular identification of fruit bats, natural host of Nipah virus in Bangladesh, based on DNA barcode

  • Md. Maharub Hossain Fahim;Walid Hassan;Afia Afsin;Md. Mahfuzur Rahman;Md. Tanvir Rahman;Sang Jin Lim;Yeonsu Oh;Yung Chul Park;Hossain Md. Faruquee;Md. Mafizur Rahman
    • Journal of Ecology and Environment
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    • v.48 no.2
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    • pp.163-172
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    • 2024
  • Background: Fruit bats are natural carriers of Nipah virus (NiV). The primary objective of this study is to identify potential reservoir species in a selected geographic regions. It is necessary to determine an accurate species identification of the associated reservoir bat species distributed in a specific region. Results: In this study, we collected 20 different bat specimens from the NiV-prone area of the Kushtia district. Among these, 14 were tissue samples (BT-1-14) and six were fecal samples (BF-1-6). We used the mitochondrial gene cytochrome b, one of the most abundant and frequently used genetic markers, for polymerase chain reaction amplification and sequencing. Out of the 20 samples, 12 tissue samples and 2 fecal samples were successfully amplified and sequenced. However, two tissue samples and four fecal samples yielded chimeric sequences, rendering them unsuitable for annotation. The sequences of the successfully amplified samples were compared to those deposited in the National Center for Biotechnology Information database using basic local alignment search tool to identify the bat specimen collected. The study identified six different bat species using both morphological and genetic data, which may carriers of the NiV. Conclusions: Our results suggest that additional research should be conducted to gather more information on fruit bats from different localities across the country. The study contributes to the establishment of appropriate measures for NiV carrying disease control and management.

Peltaster fructicola: Undescribed Sooty Blotch and Flyspeck Species on Apple Fruit in Korea

  • Jun-Woo Choi;Seong-Keun Lim;Seo-Ryeong Lee;Chang-Gi Back;In-Kyu Kang;Seung-Yeol Lee;Hee-Young Jung
    • The Korean Journal of Mycology
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    • v.52 no.2
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    • pp.145-153
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    • 2024
  • While investigation of the fungal diseases on apples collected from Cheongsong-gun and Bonghwa-gun in Gyeongbuk province, Korea, between August and September 2023 isolated five fungal strains from fruits with sooty blotch and flyspeck (SBFS) disease. The strains were designated as KNUF-23-CS02, KNUF-23-CS-06, KNUF-23-CS12, KNUF-23-BH01, and KNUF-23-BH03. When grown on potato dextrose agar and 2% water agar, the cultural characteristics of the strains were similar to those previously reported characteristics of Peltaster fructicola Pf001. The strains produced monoblastic, hyaline conidiogenous cells; the conidia were hyaline, unicellular, cylindrical to ovoidal, and 3.5-7×1.7-3.9 and 4.0-6.6×1.8-3.2 μm in size on synthetic nutrient-poor agar or water agars, respectively. Secondary conidia production by microcyclic conidiation and budding was observed. The KNUF-23-BH03 strain was shown to cause SBFS symptoms similar to those observed on the apples in the pathogenicity test. Molecular phylogenetic analyses were conducted based on the isolated species sequences of the internal transcribed spacer region, nuclear large ribosomal DNA subunit, and mitochondrial small ribosomal RNA subunit gene. The five strains were clustered with Peltaster fructicola Pf001. Based on the cultural and morphological characteristics and phylogenetic analysis, the five strains were identified as Peltaster fructicola, which has not been previously reported in Korea.

PERIODONTOPATHIC BACTERIA AND ANTIBIOTIC RESISTANCE GENES OF ORAL BIOFILMS IN CHILDREN (어린이 치면세균막에서 치주질환원인균과 항생제 내성유전자의 출현율)

  • Kim, Seon-Mi;Choi, Nam-Ki;Cho, Seong-Hoon;Lee, Seok-Woo;Lim, Hoi-Jeong;Lim, Hoi-Soon;Kang, Mi-Sun;Oh, Jong-Suk
    • Journal of the korean academy of Pediatric Dentistry
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    • v.38 no.2
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    • pp.170-178
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    • 2011
  • The purpose of this study was to assess the prevalence of periodontopathic bacteria and resistance determinants from oral biofilm of children. Subgingival dental plaque was isolated from 87 healthy children, and PCR was performed to determine the presence of 5 periodontal pathogens including P. gingivalis, T. forsythia, T. denticola, F. nucleatum, A. actinomycetemcomitans, and nine resistance genes including tet(Q), tet(M), ermF, aacA-aphD, cfxA, $bla_{SHV}$, $bla_{TEM}$, vanA, mecA. 1. The prevalence of F. nucleatum, T. forsythia. and P. gingivalis was 95.4%, 55.2%, and 40.2%, respectively. In addition. the prevalence of A. actinomycetemc omitans was 5.7%, while T. denticola was 3.4%. 2. In analysis of antibiotic resistance determinants. cfxA, $bla_{TEM}$ and tet(M) were detected in all the samples tested. It was also found that the prevalence of tet(Q) showing tetracycline resistance. $bla_{SHV}$ associated with resistance to ${\beta}$-lactams, ermF exhibiting erythromycin resistance, and, vanA resulting vancomycin resistance was 88.5%, 29.9% 87.4%, and 48.5%, respectively. The aacA-aphD gene showing resistance to aminoglycosides and mecA gene harboring methicillin resistance exhibited the lowest prevalence with 9.2%. 3. In a correlation analysis between periodontopathic pathogens and antibiotic resistance determinants, it was found that there was a significant correlation between T. forsythia and $bla_{SHV}$. Also, P. gingivalis and vanA showed a correlation. Finally, tet(Q) and ermF showed a significant correlation (phi: 0.514) while mecA and vanA also showed a correlation(phi: 0.25).

Signal Transduction Factors on the Modulation of Radiosusceptibility in K562 Cells (K562 세포의 방사선 감수성 변화에 영향을 미치는 신호전달인자)

  • Yang Kwang Mo;Youn Seon-Min;Jeong Soo-Jin;Jang Ji-Yeon;Jo Wol-Soom;Do Chang-Ho;Yoo Y대-Jin;Shin Young-Cheol;Lee Hyung Sik;Hur Won Joo;Lim Young-Jin;Jeong Min-Ho
    • Radiation Oncology Journal
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    • v.21 no.3
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    • pp.227-237
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    • 2003
  • Purpose: The human chronic myelogenous leukemia cell line, K562, expresses the chimeric bcr-abl oncoprotein, whose deregulated protein tyrosine kinase activity antagonizes via DNA damaging agents. Previous experiments have shown that nanomolar concentrations of herbimycin A (HWA) coupled with X-irradiation have a synergistic effect in inducing apoptosis in the Ph-positive K562 leukemia cell line, but genistein, a PTK inhibitor, is non selective for the radiation-induced apoptosils on $p210^{bcr/abl}$ protected K562 cells. In these experiments, the cytoplasmic signal transduction pathways, the Induction on a number of transcription factors and the differential gene expression in this model were investigated. Materials and Methids: K562 cells in the exponential growth phase were used in this study. The cells were irradiated with 0.5-12 Gy, using a 6 Mev Linac (Clinac 1800, Varian, USA). Immediately after irradiation, the cells were treated with $0.25/muM$ of HMA and $25/muM$ of genistein, and the expressions and the activities of abl kinase, MAPK family, NF- kB, c-fos, c-myc, and thymidine kinase1 (TK1) were examined. The differential gene expressions induced by PTK inhibitors were also investigated. Results: The modulating effects of herbimycin A and genistein on the radiosensitivity of K562 cells were not related to the bcr-abl kinase activity. The signaling responses through the MAPK family of proteins, were not involved either in association with the radiation-induced apoptosis, which is accelerated by HMA, the expression of c-myc was increased. The combined treatment of genistein, with irradiation, enhanced NF- kB activity and the TK1 expression and activity. Conclusion: The effects of HMA and genistein on the radiosensitivity on the K562 cells were not related to the bcr-abl kinase activity in this study, another signaling pathway, besides the WAPK family responses to radiation to K562 cells, was found. Further evaluation using this model will provide valuable information for the optional radiosensitization or radioprotection.

Genes Associated with Radiation Adaptive Response Induced by Low Level Radiation from $^{99m}Tc$ in Human Cell Lines (인체세포주에서 저선량 $^{99m}Tc$에 의해 발현되는 방사선 적응반응에 관련된 유전자에 관한 연구)

  • Kwon, An-Sung;Bom, Hee-Seung;Choi, Chan;Kim, Ji-Yeul;Lim, Wook-Bin
    • The Korean Journal of Nuclear Medicine
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    • v.35 no.5
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    • pp.313-323
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    • 2001
  • Purpose: The purpose of this study was to search activated genes that could be related to radiation adaptive response (RAR) induced by low-level radiation from $^{99m}Tc$ in human cell lines. Methods: We used gene discovery array (GDA) and representational difference analysis (RDA) methods. $^{99m}Tc$-pertechnetate was added to $2{\times}106/mL$ NC-37 cells (human lymphoblastic cells) to make concentrations ranging from 148 MBq/mL to 148 Bq/mL by serial 10 fold dilutions. After 44 hours, 2 Gy gamma irradiation was given to them using a Cs-137 cell irradiator. Results: As compared to the control (Con) group to which no $^{99m}Tc$ was added, those cells to which 148 and 14.8 KBq of $^{99m}Tc$ were added showed significantly lower damage to chromosomes, which was evaluated by metaphase analysis. Cells with 148 KBq $^{99m}Tc$ (T148 group) showed most significant protection. Activated genes in the T148 group as compared to Con group were evaluated by GDA and GDA methods. GDA revealed genes of casein kinase 2 (CK2) beta chain, immunoglobulins (lg), human leukocyte antigen (HLA)-B, and two novel genes. Twenty RAR related clones were selected by RDA method. The size of those genes was from 234 to 603 base pairs. Conclusions: RAR was induced by low dose irradiation from $^{99m}Tc$ in NC-37 cell lines. Genes related to the response included CK2, lg, HLA-B in human lymphoblastic cell lines.

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Effects of SNP in TSH-β Gene of Chicken on Economic Traits (닭의 경제 형질에 미치는 TSH-β 유전자 변이 효과 분석)

  • Seo, Joohee;Oh, Jae Don;Choi, Eun Ji;Lim, Hee Kyong;Seong, Jiyeon;Song, Ki Duk;Lee, Jun Heon;Lee, Hak Kyo;Kong, Hong Sik;Jeon, Gwang Joo;Shon, Young Gon;Choi, Kang Duk
    • Korean Journal of Poultry Science
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    • v.40 no.2
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    • pp.115-120
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    • 2013
  • Thyroid hormone (TH) plays a role in growth of the poultry. Thyroid-stimulating hormone (TSH) stimulates production and distribution of TH, and is a heterodimer which is formed by ${\alpha}$- and ${\beta}$-subunits. Most of TSH activity is known to rely on ${\beta}$-subunit. TSH-${\beta}$ gene is located on chicken chromosome 26 and associated with growth performances. Therefore, this study aimed to investigate the association of TSH- ${\beta}$ SNP (G1031C) with economic traits (layday, layw, layno, bw150, bw270, layw270) in Korean Native Black chicken, Rhode Island Red and Cornish. Allele frequency of GG genotype in Rhode Island Red (RIR) was found to be 1.00 in this study. A significant effect was only observed on body weight at day 150 in Cornish. In Cornish, body weights of chicken with the CC genotype ($302.15{\pm}6.336$) were significantly higher than that of the GG genotype ($294.56{\pm}4.537$) (p<0.05). These findings suggest that the G1031C SNP of TSH-${\beta}$ gene can be used for improvement of growth-related traits in Cornish.

Derivation of Mouse ES Cells from Isolated Blastomeres in Culture Media Supplemented with LIF (LIF를 첨가한 배양액을 이용한 할구 유래 생쥐 배아줄기세포주의 확립)

  • Cho, Jae-Won;Lim, Chun-Kyu;Ko, Duck-Sung;Kang, Hee-Jung;Jun, Jin-Hyun
    • Development and Reproduction
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    • v.12 no.1
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    • pp.77-86
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    • 2008
  • This study was carried out to investigate the effect of leukemia inhibitory factor (LIF) on the derivation of mouse ES cells from isolated blastomeres. Two-cell stage mouse embryos were obtained from superovulated BDF1 female mice. Collected embryos were cultured to blastocyst stage in culture medium supplemented with 0, 1,000, 2,500 or 5,000 U/mL of LIF. Cultured blastocysts were examined by counting the number of cells in the inner cell mass (ICM) and trophectoderm (TE) using differential staining method. When 2-cell embryos were cultured with 2,500 U/ml of LIF, the cell numbers of ICM significantly increased in comparing with those of the control($21.0{\pm}4.0$ vs. $15.9{\pm}5.0$, P<0.01) and 1,000 U/mL of LIF-containing group ($21.0{\pm}4.0$ vs. $16.6{\pm}4.9$, P<0.05). We used an ES cell establishment medium with 20% Knockout Serum Replacement and 0.01 mg/mL ACTH instead of fetal bovine serum. Establishing efficacy of ES cell lines were the highest in 2,500 U/mL of LIF-containing group as 36.7% (11/30). This culture medium was applied to the culture of isolated blastomeres and to derivate ES cell lines. Three ES cell lines (21.4%) from isolated blastomeres of 2-cell stage embryos were established. In further experiments, we could establish one ES cell line (4.0%) from single blastomere of 4-cell stage embryo. The subcultured ES cells and their embryoid bodies were characterized by analyzing gene expression for undifferentiation and differentiation marker gene using immunocytochemistry and RT-PCR. In conclusion, LIF supplementation in culture medium could increase the cell number in ICM of blastocysts and support derivation of ES cell lines from isolated blastomeres.

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Mono-Rifampicin-Resistant Pulmonary Tuberculosis (Rifampicin단독내성 폐결핵)

  • Shim, Tae-Sun;Lee, Ki-Man;Lim, Chae-Man;Lee, Sang-Do;Koh, Youn-Suck;Kim, Woo-Sung;Kim, Dong-Soon;Kim, Won-Dong
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.5
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    • pp.618-627
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    • 1999
  • Background : Rifampicin (RFP) is a key component of the antituberculous short-course chemotherapy. Usually the RFP resistant M.tuberculosis is also resistant to isoniazid (INH), so the RFP resistance is the marker of multi-drug resistant (MDR) tuberculosis. But unusual cases of mono-RFP-resistant tuberculosis have been recently reported with increasing frequency, especially associated with HIV infection in western countries. Therefore, we conducted a retrospective study to investigate the frequency, causes, and the clinical characteristics of mono-RFP-resistant tuberculosis in Korea. Methods : Of the bacteriologically confirmed and susceptibility-proven 699 pulmonary tuberculosis patients (921 isolates) who visited Asan Medical Center from January 1990 to August 1997, eighteen patients with INH-susceptible and RFP-resistant tuberculosis were evaluated. Previous history of tuberculosis, antituberculous drug compliances, associated systemic illness, drug susceptibility patterns, and clinical outcomes were analysed. And rpoB gene sequencing was done in 6 clinical isolates of M. tuberculosis. Results : The mean age of 18 patients was $43{\pm}14$ years, and the sex ratio is 12:6 (M : F). Sixteen (89%) patients had previous history of tuberculosis. None had diagnosed gastrointestinal disorders, and 2 HIV tests that were performed came out negative. Susceptibility tests were done repeatedly in eleven patients, and six (55%) were mono-RFP resistant repeatedly while five (45%) evolved to MDR tuberculosis. Eight (44%) patients were cured, six (33%) failed, three (17%) were lost to follow-up, and the other one is now on treatment. rpoB gene sequencing showed 5 mutations, codon 531 TCG to TIG mutation in 4 isolates and 526 CAC to TAC in 1 isolate. Conclusion : The clinical characteristics of mono-RFP resistant tuberculosis were similar to that of MDR tuberculosis in Korea where the HIV infection rate is lower than western countries. But some patients with mono-RFP-resistant tuberculous could be cured by primary drug regimens including RFP, suggesting that mono-RFP-resistant tuberculous is a different entity from MDR tuberculosis.

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Genetic Expression of Color Approved by Color Qualities of Munsell System on the Cocoon of Silkworm, Bombyx mori (누에 고치색 유전자 발현의 다양성 검정 및 색채과학적 해석)

  • Han, Myung-Sae;Park, Hyun-Ro;Han, Sang-Mi;Nam, Ki-Soo;Kwon, Soon-Ha;Lim, Jong-Sung;Nguyen, Mau Tuan
    • Journal of Sericultural and Entomological Science
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    • v.41 no.1
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    • pp.20-28
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    • 1999
  • Color qualities investigated on the basis of Munsell code and Korean standard color code for the cocoons from various strain of mulberry silkworm, Bombyx mori. 16 of different color qualities were identified from 21 of original silworm strains, and determinated international name with the revision of Korean color name for cocoon. The various cocoon color confirmed on the sphere from 567 to 593 nm wavelength, 78% of those located at the region about 580 nm (575~584) of sensitive "color difference limen". Y gene engaged broad ranges of wavelength (575~593 nm) in the color expression, by contrast with other genes of Pk (593 nm), F (584~593), Grc and relative G group (567~570 nm), on the transmission of carotenoid or flavonoid color substance. YC gene expression by original silk worm strain was also distinguished by those variation of specific yellow than other colors from Grc, GaGb, Gc, and YPkF. Appearance of chrome yellow cocoon was dominant than other yellow in the cross among vivid yellow group. F1 of pin${\times}$green produced the cocoon of yellow such as "additive mixture" as color light, however, most of the hybrid between yellow cocoon showed the color similar to "subtractive mixture" as a mixture of dyestuff. Hybrid cocoons among yellow or green colors were decreased their hue, value, and chroma, than those of parent. Diallel cross among the strain of various green cocoon suggest the existence of Grc, Ga, Gb, Gc genes. Cream colored cocoon of B. mandarina was differed from other yellow cocoon of Bobyx mori B. mori. Y$^A$ with Ymc showed the similar role of Y with C, therefore, segregated yellow cocoon from the B. mori${\times}$B. mandarina (+$^YC/Y^AYmc$). YC expression of $Y^AY$mc genes might be suppressed by deficiency of outer layer sericin on the middle division of silk giand in the B. mandarina.

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