Choi, Yu Jin;Lee, Ah Jin;Nam, Soo Hyun;Choi, Byung-Ok;Chung, Ki Wha
Journal of Life Science
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v.29
no.7
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pp.800-808
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2019
Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.
Journal of the Korean Institute of Landscape Architecture
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v.47
no.4
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pp.61-67
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2019
The purpose of this research is to evaluate the salt tolerance of the Miscanthus sinensis and to characterize the content of pigments in the leachate in relation to calcium chloride ($CaCl_2$) deicing salt. Miscanthus sinensis were cultured at five different concentrations of calcium chloride deicing salt, 0, 1, 2, 5, and $10g{\cdot}L^{-1}$ (referred to Cont. C1, C2, C5, and C10) for four months. The salt tolerance and leachate while growing Miscanthus sinensis on soil which was artificially contaminated by calcium chloride deicing salt. Soil chemical properties (pH, E.C., $Ca^{2+}$, $Na^+$, $K^+$, and $Mg^{2+}$) and plant growth parameters (plant height, leaf length, leaf width, number of leaves, shoot fresh weight, root fresh weight, shoot dry weight, an root dry weight) were evaluated. Soil pH decreased, while electrical conductivity significantly decreased ($p{\leq}0.05$) with a higher concentration of deicing salt $0g{\cdot}L^{-1}$ (Cont.). The increase in the concentration of chloride-based exchangeable cations, along with the increase in the deicing salt treatments, were observed in $Ca^{2+}$ > $Na^+$ > $K^+$ > $Mg^{2+}$. Notably the $Ca^{2+}$ exchangeable cations were 83~90% higher than the others. The growth of Miscanthus sinensis significantly increased ($p{\leq}0.05$) with the concentration of deicing salt higher than $1g{\cdot}L^{-1}$ (C1) when compared to 0 g/L (Cont.), except for the $10g{\cdot}L^{-1}$ (C10) treatment. The results determined that the contamination of soil by deicing salt could negatively impact the soil and Miscanthus sinensis was a tolerant species for the deicing salts. Further research will be focused on soil improvement additives and the stable stimulated plant growth of Miscanthus sinensis and a formulation on that basis for the soil-plant continuum.
Litsea populifolia, a plant species of the Lauraceae family, is widely distributed in the tropical and subtropical areas of Asia. The phylogenetic relationships and botanical characteristics of L. populifolia have been reported; however, its anti-oxidative and anti-cancer activities remain unclear. In this study, we evaluated the anti-oxidative and anti-cancer effects of ethanol extracts of L. populifolia (EELP) together with the molecular mechanism of its anti-cancer activity in human lung adenocarcinoma A549 cells. EELP showed significant anti-oxidative effects with a 50% inhibitory concentration at $11.71{\mu}g/ml$, which was measured by the 2,2-diphenyl-1-picrylhydrazyl radical scavenging assay. EELP exhibited cytotoxic activity and induced cell cycle arrest at the G1 phase in A549 cells in a dose-dependent manner, whereas EELP did not have the cytotoxic effect on the normal human lung cell line IMR90. Treatment with EELP also resulted in a decreased expression of G1/S transition-related molecules-including cyclin-dependent kinase (CDK) 2, CDK6, cyclin D1, and cyclin E-both for the transcription and translation levels. EELP-induced G1 arrest was associated with the phosphorylation of checkpoint kinase 2 (CHK2), p53, cell division cycle 25 homolog A (CDC25A), and the reduction of CDC25A expression in A549 cells. Collectively, these results suggest that EELP may exert an anti-cancer effect by cell cycle arrest at the G1 phase through both p53-dependent and p53-independent (ATM/CHK2/CDC25A/CDK2) pathways in A549 cells.
Journal of The Korean Society of Inherited Metabolic disease
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v.18
no.2
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pp.43-49
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2018
Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.
Lim, Han Hyuk;Song, Wung Joo;Kim, Gu-Hwan;Watkins, David;Rosenblatt, David S.;Kim, Yoo-Mi;Chang, Mea Young;Kil, Hong Ryang;Kim, Sook Za
Journal of The Korean Society of Inherited Metabolic disease
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v.19
no.1
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pp.12-19
/
2019
Purpose: Isolated methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder of propionate metabolism. There are two subtypes of MMUT gene defects. $Mut^0$ represents complete loss of methylmalonyl-CoA mutase (MCM) activity while mut- is associated with residual MCM activity, which can be stimulated by hydroxocobalamin (OHCbl) supplementation. The objective of this study is to investigate cobalamin responsiveness and mutations present in Korean MMA population. Methods: We evaluated 10 MMA patients using somatic cell complementation analysis on their fibroblasts to measure MCM activity and vitamin B12 responsiveness for the optimal treatment. MMUT gene was sequenced to identify the MMA mutations. Results: For all patients, the incorporation of $[^{14}C]-propionate$ was low, and there was no response to OHCbl. The incorporation of $[^{14}C]-methyltetrahydrofolate$ and $[^{57}Co]-CNCbl$ fell within the normal range. There was adequate synthesis of methylcobalamin while the synthesis of adenosylcobalamin was low. The complementation analysis showed all patients were $mut^0$. The sequence analysis identified 12 different MMUT mutations, including 2 novel mutations, p.Gln267Ter and p.Ile697Phe, were identified. All the patients in this study had neonatal onset of symptoms, belonged to $mut^0$ complementation class, and as a result, showed no cobalamin responsiveness. Conclusion: No Korean MMA patient showed cobalamin responsiveness.
Cognitive decline is characterized by reduced long-/short-term memory and attention span, and increased depression and anxiety. Such decline is associated with various degenerative brain disorders, especially Alzheimer's disease (AD) and Parkinson's disease (PD). The increases in elderly populations suffering from cognitive decline create social problems and impose economic burdens, and also pose safety threats; all of these problems have been extensively researched over the past several decades. Possible causes of cognitive decline include metabolic and hormone imbalance, infection, medication abuse, and neuronal changes associated with aging. However, no treatment for cognitive decline is available. In neurodegenerative diseases, changes in the gut microbiota and gut metabolites can alter molecular expression and neurobehavioral symptoms. Changes in the gut microbiota affect memory loss in AD via the downregulation of NMDA receptor expression and increased glutamate levels. Furthermore, the use of probiotics resulted in neurological improvement in an AD model. PD and gut microbiota dysbiosis are linked directly. This interrelationship affected the development of constipation, a secondary symptom in PD. In a PD model, the administration of probiotics prevented neuron death by increasing butyrate levels. Dysfunction of the blood-brain barrier (BBB) has been identified in AD and PD. Increased BBB permeability is also associated with gut microbiota dysbiosis, which led to the destruction of microtubules via systemic inflammation. Notably, metabolites of the gut microbiota may trigger either the development or attenuation of neurodegenerative disease. Here, we discuss the correlation between cognitive decline and the gut microbiota.
Park, Jeong-Woo;Ly, Hoang Vu;Oh, Changho;Kim, Seung-Soo
Clean Technology
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v.25
no.2
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pp.129-139
/
2019
Bamboo is an evergreen perennial plant, and it is known as one of the most productive and fastest-growing plants in the world. It grows quickly in moderate climates with only moderate water and fertilizer. Traditionally in Asia, bamboo is used for building materials, as a food source, and as versatile raw materials. Bamboo as a biomass feedstock can be transformed to prepare activated carbon using the thermal treatment of pyrolysis. The effect of process variables such as carbonization temperature, activation temperature, activation time, the amount of steam, and the mixing ratio of phosphoric acid and bamboo were systematically investigated to optimize the preparation conditions. Steam activation was proceeded after carbonization with a vapor flow rate of $0.8{\sim}1.8mL-H_2O\;g-char^{-1}\;h^{-1}$ and activation time of 1 ~ 3 h at $700{\sim}900^{\circ}C$. Carbon yield and surface area reached 2.04 ~ 20.59 wt% and $499.17{\sim}1074.04m^2\;g^{-1}$, respectively, with a steam flow rate of $1.4mL-H_2O\;g-char^{-1}\;h^{-1}$ for 2 h. Also, the carbon yield and surface area were 24.67 wt% and $1389.59m^2\;g^{-1}$, respectively, when the bamboo and phosphoric acid were mixed in a 1:1 weight ratio ($700^{\circ}C$, 2 h, $1.4mL-H_2O\;g-char^{-1}\;h^{-1}$). The adsorption of methylene blue into the bamboo activated carbon was studied based on pseudo first order and second order kinetics models. The adsorption kinetics were found to follow the pseudo second order model, which is governed by chemisorption.
Kim, Kyong;Jang, Se-Eun;Bae, Gong Deuk;Jun, Hee-Sook;Oh, Yoon Sin
Journal of Nutrition and Health
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v.51
no.6
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pp.498-506
/
2018
Purpose: Lycopene, a carotenoid with anti-oxidant properties, occurs naturally in tomatoes and pink grapefruit. Although the beneficial effects of lycopene on various disorders have been established, little attention has been paid to the possible anti-diabetic effects of lycopene focusing on ${\beta}$-cells. Therefore, this study investigated the potential of lycopene to protect ${\beta}$-cells against apoptosis induced by a cytokine mixture. Methods: For toxicity experiments, the cells were treated with 0.1 ~ 10 nM of lycopene, and the cell viability in INS-1 cells (a rat ${\beta}$-cell line) was measured using a MTT assay. To induce cytokine toxicity, the cells were treated with a cytokine mixture (20 ng/mL of $TNF{\alpha}$ + 20 ng/mL of IL-$1{\beta}$) for 24 h, and the effects of lycopene (0.1 nM) on the cytokine toxicity were measured using the MTT assay. The expression levels of the apoptotic proteins were analyzed by Western blotting, and the level of intracellular reactive oxidative stress (ROS) was monitored using a DCFDA fluorescent probe. The intracellular ATP levels were determined using a luminescence kit, and mRNA expression of the genes coding for anti-oxidative stress response and mitochondrial function were analyzed by quantitative reverse-transcriptase PCR. Results: Exposure of INS-1 cells to 0.1 nM of lycopene increased the cell viability significantly, and protected the cells from cytokine-induced death. Lycopene upregulated the mRNA and protein expression of B-cell lymphoma-2 (Bcl-2) and reduced the expression of the Bcl-2 associated X (Bax) protein. Lycopene inhibited apoptotic signaling via a reduction of the ROS, and this effect correlated with the upregulation of anti-oxidative stress response genes, such as GCLC, NQO1, and HO-1. Lycopene increased the mRNA expression of mitochondrial function-related genes and increased the cellular ATP level. Conclusion: These results suggest that lycopene reduces the level of oxidative stress and improves the mitochondrial function, contributing to the prevention of cytokine-induced ${\beta}$-cell apoptosis. Therefore, lycopene could potentially serve as a preventive and therapeutic agent for the treatment of type 2 diabetes.
Inflammation is the most common condition in the human body. Tissue damage triggers inflammation, together with vasodilation and increased blood flow at the inflamed site, resulting in edema. Inflammatory responses are also triggered by lipopolysaccharide (LPS), a Toll-like receptor Enterococcus faecalis, a gram-positive organism, has been reported to possess immunomodulatory and preventive activities; however, its use may present risks of sepsis and other systemic infections. Heat-killed Enterococcus faecalis (EF-2001) has been reported to induce antitumor activity, but its effects on inflammation are not known. In the present study, we investigated the effect of EF-2001 on LPS-induced macrophage inflammatory responses. EF-2001 treatment reduced nitric oxide (NO) production, indicating suppression of inflammatory reactions. EF-2001 showed no cytotoxicity in macrophages. Further investigation of the anti-inflammatory mechanism of EF-2001 indicated that EF-2001 reduced the LPS-induced expression of inducible nitric oxide synthase and cyclooxygenase-2. EF-2001 also reduced f the LPS induction of several inflammatory molecules involved in the nuclear factor-${\kappa}B$ ($NF-{\kappa}B$) and mitogen-activated protein kinase pathways, including ERK, JNK, and p38 phosphorylation, in a concentration-dependent manner. Additionally, EF-2001 inhibited Akt phosphorylation and increased the expression of the inhibitory ${\kappa}B$ ($I{\kappa}B$) protein, an inhibitor of $NF-{\kappa}B$. EF-2001 also inhibited the nuclear translocation of p65. These results suggest that EF-2001 has anti-inflammatory properties and may be useful for treating inflammatory diseases.
Jeon, Hansol;Ryu, Seung-Ho;Ha, Jee Hyun;Jeon, Hong Jun;Park, Doo-Heum
Sleep Medicine and Psychophysiology
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v.25
no.2
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pp.68-73
/
2018
Objectives: The purpose of this study was to explore insomniac demographic characteristics and the type of consultation provided to hospitalized patients asked to the Department of Psychiatry for insomnia and to compare patient insomnia characteristics by consultation type. Methods: We performed a retrospective chart review of 4,966 patients who were hospitalized from August 1, 2005 to December 31, 2011 that received consultation in the Department of Psychiatry. Among them, 236 patients were referred for insomnia. We compared the differences in demographic characteristics and types of consultation between the insomnia patient group and other patient group. We also compared the difference between demographic characteristics and type of consultation by dividing total subjects into 'with reconsultation' and 'without reconsultation' groups. Results: Our results came from the analysis of 9,689 consecutive consultation requests. There were 4,966 patients that participated in the study over 6 years and 6 months. The overall consultation rate was 3.3% of all admissions and insomnia patients comprised 4.8% of those. The ratio of re-consultation for insomnia was 27.5%. There was no significant difference in mean age between the insomnia 'with reconsultation group' and the insomnia 'without reconsultation group', but the 'with reconsultation' group had significantly more male patients and medical patients than the 'without re-consultation' group. For insomnia patients, consultation types were in the order of Mending request (51.3%), Paralle request (36.6%), Complementary request (9.0%) and this composition differed from that of total admission patients. Conclusion: Hospitalized patients referred for insomnia showed a higher proportion of male patients, lower rates of re-consultation compared with other patients, and most of these were for secondary insomnia. Each doctor should be aware of the possibility of inpatient insomnia, conduct positive assessments and referrals as necessary, and psychiatrists who might be asked for consultation need to prepare an active intervention with initial diagnosis and treatment, as well as recommendations for the timing of reconsultation.
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