• Title/Summary/Keyword: Human genetics

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Molecular Genetics of Inherited Cardiac Conduction Defects in Humans and Dogs (개와 사람의 선천성 심장 전도장애에 대한 분자 유전학적 이해)

  • Hyun, Changbaig
    • Journal of Veterinary Clinics
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    • v.21 no.2
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    • pp.219-228
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    • 2004
  • Heart diseases related to conduction system can be occurred by primary defects in conduction system and by secondary to morphological heart diseases or drug toxicities. Multiple molecular defects responsible for arrhythmogenesis, including mutations in ion channels, cytoplasmic ion-channel-interacting proteins, gap-junction proteins, transcription factors and a kinase subunit, were found to be associated with the aetiology of primary cardiac conduction defects, especially inherited form. Despite a big progress in unveiling human arrhythmogenesis, conduction defects in dog has not been well studied except sudden death syndrome in German shepherd. In this review, molecular genetics in cardiac arrhythmogenesis, inherited human diseases associated with conduction defects and similar diseases in dogs will be discussed.

Gene Therapy Vectors: A Current Research Insight (유전자치료를 위한 벡터 개발의 연구 동향)

  • Son, Eun-Hwa;Sohn, Eun-Soo;Pyo, Suhk-Neung
    • Journal of Pharmaceutical Investigation
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    • v.34 no.5
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    • pp.351-362
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    • 2004
  • The basic concept underlying gene therapy is that human diseases may be treated by the transfer of genetics material into specific cells of a patient in order to correct or supplement defective genes responsible for disease development. There are several systems that can be used to transfer foreign genetic material into the human body. Both viral and non-viral vectors are developed and evaluated for delivering therapeutic genes. Viral vectors are biological systems derived from naturally evolved viruses capable of transferring their genetics materials into host cells. However, the limitations associated with viral vectors, in terms of their safety, particularly immunogenecity, and their limited capacity of transgenic materials, have encouraged researchers to increasingly focus on non-viral vectors as an alternative to viral vectors. Although non-viral vectors are less efficient than viral ones, they have the advantages of safety, simplicity of preparation and high gene encapsulation capability. This article reviews the most recent studies highlighting the advantages and the limitation of gene delivery systems focused on non-viral systems compared to viral systems.

Plasma Carnitine Profiles in Different Aged Normal Korean Women : Hypothesis of Possible Significance

  • Cha, Youn-Soo;Joo, Eun-Jung;Sohn, Hee-Sook
    • Nutritional Sciences
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    • v.1 no.1
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    • pp.56-60
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    • 1998
  • The present study was conducted to find out whether there are some differences in plasma carnitine levels among young-, middle-, and old-aged normal Korean women. Daily food intake, body fat content, plasma lipids and carnitine levels were measured in 153 samples from 44 young (20-24 years old), 49 middle-aged (30-49 years old), and 63 old (65-85 years old) normal volunteers. The differences in concentrations of nonesterified acylcarnitine and acid-soluble acylcarnitine were not statistically significant among them. However, acid insoluble acylcarnitine (AIAC) level in plasma decreased with age. Moreover, total carnitine (TCNE) level in the young group was significantally higher than in old and middle-aged groups. Body fat content in the young group was significantly lower than in old and middle-aged groups. Plasma total cholesterol increased with age and triglycerides in the old group were significantly higher than in young and middle-aged groups. These results suggest that the higher levels of AIAC and TCNE in the young group may be a reflection of their lipid metabolic state, which is different from middle-aged and old groups.

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Roles of Galectin-7 in Cancer

  • Kaur, Manpreet;Kaur, Tarnjeet;Kamboj, Sukhdev Singh;Singh, Jatinder
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.2
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    • pp.455-461
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    • 2016
  • Galectins are ${\beta}$-galactoside binding lectins that contain one or more carbohydrate recognition domains. As a consequence of sugar-binding properties, galectins exhibit a variety of interactions with glycoproteins, thus playing important roles in various pathological processes. A number of studies have shown roles of galectins in cancer. Galectin-7 is a prototype member of the galectin family implicated in epithelial stratification and cell migration. It can act as a potent dual regulator in different types of cancer. Galectin-7 may contribute either to neoplastic transformation and tumour progression through regulation of cell growth, cell cycle, angiogenesis, apoptosis and cell migration or may have a protective effect in cancer depending on the tissue type. A perusal of the literature indicates particular roles of galectin-7 in carcinomas and melanomas, while contributions await greater exploration in other types of cancers including sarcomas and leukemia. This review collectively summarizes available literature on expression and roles of galectin-7 in different cancers.

Curcumin Induces Apoptosis in Pre-B Acute Lymphoblastic Leukemia Cell Lines Via PARP-1 Cleavage

  • Mishra, Deepshikha;Singh, Sunita;Narayan, Gopeshwar
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.8
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    • pp.3865-3869
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    • 2016
  • Curcumin, a polyphenolic compound isolated from the rhizomes of an herbaceous perennial plant, Curcuma longa, is known to possess anticancerous activity. However, the mechanism of apoptosis induction in cancers differs. In this study, we have (1) investigated the anticancerous activity of curcumin on REH and RS4;11 leukemia cells and (2) studied the chemo-sensitizing potential of curcumin for doxorubicin, a drug presently used for leukemia treatment. It was found that curcumin induced a dose dependent decrease in cell viability because of apoptosis induction as visualized by annexin V-FITC/ PI staining. Curcumin-induced apoptosis of leukemia cells was mediated by PARP-1 cleavage. An increased level of caspase-3, apoptosis inducing factor (AIF), cleaved PARP-1 and decreased level of Bcl2 was observed in leukemia cells after 24h of curcumin treatment. In addition, curcumin at doses lower than the $IC_{50}$ value significantly enhanced doxorubicin induced cell death. Therefore, we conclude that curcumin induces apoptosis in leukemia cells via PARP-1 mediated caspase-3 dependent pathway and further may act as a potential chemo-sensitizing agent for doxorubicin. Our study highlights the chemo-preventive and chemo-sensitizing role of curcumin.

Effect of Fibroblast Growth Factor-2 on Migration and Proteinases Secretion of Human Umbilical Vein Endothelial Cells

  • Oh, In-Suk;Kim, Hwan-Gyu
    • Journal of Microbiology and Biotechnology
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    • v.14 no.2
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    • pp.379-384
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    • 2004
  • Fibroblast growth factor-2 (FGF-2) is known to modulate numerous cellular functions in various cell types, including cell proliferation, differentiation, survival, adhesion, migration, and motility, and also in processes such as wound healing, angiogenesis, and vasculogenesis. FGF-2 regulates the expression of several molecules thought to mediate critical steps during angiogenesis. This study examines the mechanisms underlying FGF-2-induced cell migration, using human umbilical vein endothelial cells (HUVECs). FGF-2 induced the nondirectional and directional migration of endothelial cells, which are inhibited by MMPs and plasmin inhibitors, and induced the secretion of matrix metalloproteinase-3 (MMP3) and MMP-9, but not MMP-l and MMP-2. FGF-2 also induced the secretion of the tissue inhibitor of metalloproteinase-l (TIMP-I), but not of TIMP- 2. Also, the pan-PKC inhibitor inhibited FGF-2-induced MMP-9 secretion. It is, therefore, suggested that FGF-2 induces the migration of cultured endothelial cells by means of increased MMPs and plasmin secretion. Furthermore, FGF-2 may increase MMP-9 secretion by activating the PKC pathway.

Endogenous Gene Expression of p53 and Regulatory Subunits of Cyclic AMP-dependent Protein Kinase in Ovarian Cancer Cells (난소암 세포주에서 p53과 Cyclic AMP-dependent Protein Kinase의 Regulatory Subunit 유전자들의 발현에 관한 연구)

  • Jin Seo;Park, Woonmee;Hwang, Eun-Seong;Lee, Je-Ho;Hong, Seung-Hwan
    • The Korean Journal of Zoology
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    • v.38 no.2
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    • pp.204-211
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    • 1995
  • In an effort to develop a new therapeutic strategy for human gene therapy of solid ovarian tumor, we studied the expression of the p53 tumor suppressor Sene as well as regulatory subunits of cyclic AMP (cAMP)-dependent protein kinase in human ovarian carcinoma cells. Four cell lines (2774, Caov-3, SK-OV-3 and OVCAR-3) were selected for the analyses. The p53 transcript and protein were detected only in the 2774 cell line by Northern and Western Bnalysis. In the relatively fast growing cell line, SK-OV-3, the %rope 1 a regulstorv subunit (RIA of CAMP-dependent protein kinase was the highest among the four cell lines. The expression level of $RII\beta$ protein was low in the four cell lines examined. These results maw point to a direction to select the target gene(sl to be employed for gene therapy to control the ovarian cancer.

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The Effects of Carnitine and/or Gamma-Aminobutyric Acid (GABA) Supplementation on the Recovery of Chronic Ethanol Administered Rats

  • Soh, Ju-Ryoun;Tokuo T. Yamamoto;Cha, Youn-Soo
    • Preventive Nutrition and Food Science
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    • v.8 no.2
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    • pp.119-123
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    • 2003
  • To investigate the effects of the supplementation of carnitine and/or ${\gamma}$ -aminobutric acid (GABA), Sprague-Dawley male rats were orally treated with either an AIN-76 diet (control), a control diet plus ethanol (CE, 4 g ethanol/kg bw), CE plus L-carnitine (CEC, 0.5 g/kg bw), CE plus GABA (CEG, 0.5 g/kg bw), or CE plus L-carnitine plus GABA (CECG, 0.25 g/kg bw each) for 6 weeks. Serum triglyceride levels were increased in the CE group and were decreased significantly in the CEC, CEG and CECG groups. HDL-cholesterol was increased and LDL-cholesterol was decreased in the CEG and CECG groups compared with the CE group. Serum GOT and GPT levels increased by the chronic ethanol administration were decreased in the CEC group. In addition, we have evaluated the mRNA levels of carnitine palmitoyltransferase-I in those groups. Supplementation of carnitine/GABA had some recovery effects on the liver CPT-I mRNA levels which decreased by chronic ethanol administration. These results may suggest that supplementations of either L-carnitine or GABA aye effective on the recovery of chronic ethanol-related symptoms, but no combined effects were shown.

Erythrocyte Sedimentation Rate: Its Determinants and Relationship with Risk Factors Involved in Ischemic Stroke

  • Kaur, Kirandeep;Kaur, Amandeep;Kaur, Anupam
    • Korean Journal of Clinical Laboratory Science
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    • v.54 no.1
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    • pp.1-8
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    • 2022
  • Erythrocyte sedimentation rate (ESR) evaluation is a useful tool for monitoring disease activity in various inflammatory and non-inflammatory conditions. ESR is known to be influenced by a multitude of confounding factors. The present study aimed to assess the possible determinants of the ESR and its relationship with various risk factors involved in ischemic stroke. ESR and other hematological and biochemical parameters were investigated in 163 ischemic stroke patients (107 males and 56 females) selected based on imaging techniques including magnetic resonance imaging (MRI) or computed tomography (CT) scans. Statistical analysis was performed using the SPSS 16.0 software. Linear regression analysis showed a significant inverse relationship of hemoglobin (Hb) and hematocrit or packed cell volume (PCV) (P<0.001 for females; P<0.01 for males) with the ESR. It was observed that the red blood cell (RBC) count was not strongly correlated with the ESR (P<0.05 for both males and females). It was also observed that sex significantly affected the variables determining the ESR levels, whereas age had no effect. Gender differences were also observed with respect to Hb, RBC, PCV, mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and ESR. The possible determinants of higher ESR levels in ischemic stroke may be sex, Hb, hematocrit, and RBC count, but the role of other clinical and laboratory parameters cannot be underestimated.

DNA Damage Induced by New Pophyrins of Different Chemical Structure

  • Galina Hovhannisyan;Samvel Haroutiunian;Kristina Margaryan;Robert Ghazaryan;Rouben Aroutiounian
    • Korean Journal of Environmental Biology
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    • v.23 no.4
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    • pp.379-382
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    • 2005
  • The new cationic meso-substituted N-quarternized 4-pyridylporphyrins and their metal derivatives were synthesized as novel chemotherapeutics. The level of DNA damage induced by porphyrins TOBut4PyP, TOBut4PyP, TOEt4PyPMn and TOBut4PyPMn and its dependence on the chemical structure of compounds were analyzed by the Comet-assay. On the base of data obtained, the investigated porphyrins may be arranged by their genotoxic activity in the following order: TOEt4PyP>TOEt4PyPMn>TOBut4PyP>TOBut4PyPMn. Thus, i) the genotoxicity of the Mn-derivatives of TOEt4PyP and TOBut4PyP is higher than the original porphyrins and ii) the genotoxicity of TOEt4PyP and TOEt4PyPMn is increased after substitution of a butyl radical for ethyl one. The applied Comet-assay permits to reveal the dependence of DNA damage induction on the chemical structure of porphyrins.