• Title/Summary/Keyword: Protein-1

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Identification of Compound Heterozygous Alleles in a Patient with Autosomal Recessive Limb-Girdle Muscular Dystrophy (상염색체 열성 지대형 근이영양증 환자로부터 TTN 유전자의 복합 이형접합성 대립유전자의 분리)

  • Choi, Hee Ji;Lee, Soo Bin;Kwon, Hye Mi;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
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    • v.31 no.10
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    • pp.913-921
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    • 2021
  • Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

Attenuation of Lipopolysaccharide-induced Inflammatory and Oxidative Response by 5-Aminolevulinic Acid Phosphate in RAW 264.7 Macrophages (RAW 264.7 대식세포에서 lipopolysaccharide 자극에 의한 염증성 및 산화적 스트레스에 미치는 5-aminolevulinic acid phosphate의 영향)

  • Ji, Seon Yeong;Kim, Min Yeong;Hwangbo, Hyun;Lee, Hyesook;Hong, Su Hyun;Cha, Hee-Jae;Kim, Heui-Soo;Kim, Suhkmann;Choi, Yung Hyun
    • Journal of Life Science
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    • v.31 no.9
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    • pp.818-826
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    • 2021
  • 5-Aminolevulinic acid phosphate (5-ALA-p) is a substance obtained by eluting 5-ALA (a natural delta amino acid) with aqueous ammonia, adding phosphoric acid to the eluate, and then adding acetone to confer properties suitable for use in photodynamic therapy applications. However, its pharmacological efficacy, including potential mechanisms of antioxidant and anti-inflammatory reactions, remains unclear. This study aimed to investigate the effects of 5-ALA-p on oxidative and inflammatory stresses in lipopolysaccharide (LPS)-stimulated RAW 264.7 cells. Our data showed that 5-ALA-p significantly inhibited excessive phagocytic activity via LPS and attenuated oxidative stress in LPS-treated RAW 264.7 cells. Furthermore, 5-ALA-p improved mitochondrial biogenesis reduced by LPS, suggesting that 5-ALA-p restores mitochondrial damage caused by LPS. Additionally, 5-ALA-p significantly suppressed the release of nitric oxide (NO) and pro-inflammatory cytokines, such as tumor necrosis factor α (TNF-α), interleukin (IL)-1β, and IL-6, which are associated with the inhibition of inducible NO synthase and respective cytokine expression. Furthermore, 5-ALA-p reduced the nuclear translocation of nuclear factor-kappa B (NF-κB) and inhibited phosphorylation of mitogen-activated protein kinases (MAPKs), indicating that the anti-inflammatory effect of 5-ALA-p is mediated through the suppression of NF-κB and MAPK signaling pathways. Based on these results, 5-ALA-p may serve as a potential candidate to reduce inflammation and oxidative stress.

A New Early Maturing Rice Cultivar with High Quality and Good Taste, 'Geumyeong' (중산간지 적응 조숙 고식미 벼 신품종 '금영(金穎)')

  • Choung, Jin-Il;Park, Hyun-Su;Kang, Jong-Rae;Nam, Min-Hee;Kwak, Do-Yeon;Kim, Jeong-Il;Song, You-Chun;Yeo, Un-Sang;Shin, Mun-Sik;Lee, Jong-Hee;Kim, Dae-Sik;Park, No-Bong;Park, Dong-Soo;Yi, Gi-Hwan;Cho, Jun-Hyeon;Kim, Chun-Song;Kang, Hang-Won;Ko, Jae-Kwon;Ahn, Jin-Gon;Kim, Jung-Gon;Hwang, Heung-Gu
    • Korean Journal of Breeding Science
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    • v.42 no.3
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    • pp.272-275
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    • 2010
  • 'Geumyoung' is a new early maturing rice cultivar developed from the cross between Sambaegbyeo and Iksan423/Sangju22 at Sangju Substation, NICS, RDA, Korea in 2009. It needs about 116 days from seedling to harvest in mid-mountainous areas. This cultivar has about 72 cm long culm and 19 cm long panicle, which are similar to Odaebyeo. It has higher panicle number per plant, medium to small grains and sometimes has a few awned spikelets. It shows tolerance to cold and resistance to blast but is susceptible to bacterial blight, virus diseases, and insects and pests. Milled rice of 'Geumyoeng' is translucent with non-glutinous endosperm and medium short grain. It has about 18.0% amylose and 6.6% protein content with good palatability of cooked rice. The milled rice yield of this cultivar was 5.53 MT/ha under standard fertilizer level of ordinary transplanting cultivation. 'Geumyong' would be adaptable for ordinary transplanting cultivation in the northern plains, and northern and southern mid-mountainous areas of South Korea.

A New Rice Cultivar "Jogwang" with RSV Resistance and Short Growth Duration (벼줄무늬잎마름병 저항성 단기성 벼 신품종 "조광")

  • Lee, Jong-Hee;Kang, Jong-Rae;Park, Dong-Soo;Yeo, Un-Sang;Kwak, Do-Yeon;Shin, Mun-Sik;Song, You-Chun;Ha, Woon-Goo;Cho, Jun-Hyeon;Kim, Chun-Song;Jeon, Myeong-Gi;Lee, Gi-Yun;Yi, Gi-Hwan;Nam, Min-Hee;Ku, Yeon-Chung;Oh, Byeong-Geun;Kim, Myeong-Ki;Yang, Sae-Jun;Kim, Jae-Kyu
    • Korean Journal of Breeding Science
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    • v.41 no.2
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    • pp.163-167
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    • 2009
  • Jogwang is a new early maturing japonica rice developed in 2007 from a cross between Milyang187 and YR21113-B-B at the Department of Functional Crop Science, NICS, RDA. This cultivar is very suitable to the rice-cash crop double cropping system. Heading date of Jogwang is 2 days earlier than Keumobyeo under the late transplanting cultivation on July 10 at the Yeongnam plain. The tolerance level of this variety to leaf discoloration at seedling stage is very similar to Keumobyeo. It showed slightly lower viviparous germination and premature heading. This cultivar showed resistant reactions to leaf blast and rice stripe virus disease but susceptible to bacterial blight disease and major insect pests. The ratio of milling and head rice recovery of Jogwang is 76.5% and 64.5%, respectively. The milled kernels are translucent with non glutinous endosperm. This cultivar has 7.3% protein and 18.5% amylose content. In local adaptability test, showed that the milled rice yield of Jogwang is $4.90\;MT\;ha^{-1}$. This cultivar is suitable for planting in the plain paddy fields of Honam and Yeonnam regions in Korea.

Base Study Related with Development of Natural Bio-Adhesives Using Seaweeds (해초류를 이용한 천연 바이오 접착제 개발 기반 연구)

  • Han, Won-Sik;Oh, Seung-Jun;kim, Young-Mi;Lee, You-Jin;Kim, Ye-Jin;Park, Min-Seon;Wi, Koang-Chul
    • Journal of Conservation Science
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    • v.34 no.6
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    • pp.595-604
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    • 2018
  • In this study, in a bid to develop natural bioadhesives for paper craft, the hanji industry, and preserving cultural assets, complex polysaccharides were extracted from brown and red algae and used as an ingredient in adhesives. Brown algae include sea trumpet, kelp, sea oak, and sea mustard, whereas red algae include Pachymeniopsis elliptica agar-agar weed, Gloiopeltis tenax, and hunori. The polysaccharides were extracted after transforming them from non-aqueous Ca complexes contained in each of the brown and red algae into water-soluble polysaccharides containing alkali metals with a solubility level of 1. and extracted Subsequently, only the polysaccharides were extracted using alcohol precipitation. The adhesion tensile strengths of kelp, a brown algae, and Pachymeniopsis elliptica, a red algae, were 21.58 and 32.99 kgf, respectively. They thus demonstrated better adhesion than that of solid glue products such as water plants (18.45 kgf) and glue sticks (20.45 kgf). The extraction yield of these polysaccharides is supposed to be determined according to their extracted environments; however, no difference in adhesion strength was seen. Further, it was found that the shapes of polysaccharides were determined by their growing environment instead of extraction environment. Use of multi-step alcohol precipitation method during extraction enabled the removal of the constituents except protein and other polysaccharides, thereby demonstrating a stable outcome without cultivation of mold. Furthermore, there was no occurrence of mold even after production of the adhesives by the simple solution method, which demonstrates the adhesive's potential as an environment-friendly adhesive material.

Effects of Dietary Zinc Supplements on the Antioxidant Indicators and the Expression of Zinc Transport Genes in Korean Native Chicks (한국 재래닭에서 아연 보충급여가 항산화 지표 및 아연 운반 유전자 발현에 미치는 영향)

  • Jeon, Dong-Gyung;Kim, Min-Jeong;Yoon, Il-Gyu;Ahn, Ho-Sung;Sohn, Sea-Hwan;Jang, In-Surk
    • Korean Journal of Poultry Science
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    • v.46 no.3
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    • pp.161-171
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    • 2019
  • Four-week-old male Korean native chicks (KNC) were assigned to 3 groups with 6 replicates (8 birds/replicate) in each group: a basal diet (CON, 100 ppm of Zn), basal diet fortified with 50 ppm of Zn with zinc oxide (ZnO), or basal diet fortified with 50 ppm of Zn with Zn-methionine (ZnM). Immediately after a 4-week-feeding trial, 6 birds per group were used to evaluate the effects of zinc supplements on antioxidant indicators and the mRNA expression of zinc transport genes. The nitrogen components, lipid peroxidation, and total antioxidant status in blood were not influenced by Zn fortified diets. However, the ZnM group showed a significant (P<0.05) increase in uric acid levels than those in the ZnO group. In the small intestine, superoxide dismutase (SOD) and glutathione peroxidase (GPX) activities, and malondialdehyde (MDA) level were unaffected by zinc supplements. The activity of glutathione S-transferase (GST) was significantly (P<0.05) enhanced by Zn-methionine supplementation. In the liver, the activity of GST was significantly (P<0.05) increased by Zn-methionine supplement without affecting SOD, GPX, and MDA levels. With respect to the mRNA expression of zinc transport genes, the ZnM group displayed a strong tendency for increases in intestinal ZnT-1 (P=0.09) and ZnT-5 (P=0.06) levels, compared to those in the CON group. Moreover, the ZnM group showed a tendency (P=0.10) for up-regulation of hepatic metallothionein mRNA as compared with the CON group. In conclusion, the Zn-fortified diet with 50 ppm of Zn-methionine helped to improve GST activity and Zn transport gene expression in the small intestine or liver of KNC.

Effects of Elastic Band Exercise on Body Composition, Blood lipids and AMPK in the Elderly Women (탄력밴드 운동이 여성노인의 체조성, 혈중지질 및 AMPK에 미치는 영향)

  • Choi, Mi-Ri-Na;Ha, Soo-Min;Kim, Do-Yeon
    • Journal of the Korean Applied Science and Technology
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    • v.36 no.3
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    • pp.995-1007
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    • 2019
  • The purpose of this study was to investigate the effects of 12-week elastic band exercise on body composition, blood lipids and AMPK in 24 elderly female volunteers aged 65-75 years, and they were divided into the combined exercise group(n=12) and the control group(n=12). The elastic band exercise method was to do exercise 3 times a week for 60 minutes per session, 1-4 weeks for low intensity of OMNI-RES 3-4, 5-8 weeks for medium intensity of OMNI-RES 5-6, 9-12 weeks for OMNI-RES 7-8 of high intensity. In order to compare the differences in the groups before and after the elastic band exercise, two-way repeated measures ANOVA was used to verify the interaction between group and time. The difference in the groups of the measured data was paired t-test, the difference between the groups was paired independent t-test, and analysis of covariance ANCOVA was performed to minimize the inter-group error. The statistical significance level of each item was set to .05. As a result, body fat percentage of exercise group significantly decreased (p<.05), and skeletal muscle volume was significantly increased (p<.01). TC, TG and LDL-C were not significantly different between the exercise and control groups, and HDL-C was significantly decreased in the control group (p<.05). AMPK was significantly decreased in the exercise group (p<.001), but there was no significant difference in the control group. According to the covariance analysis to minimize the error of difference between the pre-exercise groups (p<.05), there was significant difference in AMPK of groups after exercise. These results suggest that the 12-week elastic band exercise has a positive effect on the body composition and AMPK of the elderly women.

Effect of Sulgidduk containing pine needle juice on lipid metabolism in high fat-cholesterol diet induced dyslipidemic rats (이상지질혈증 동물 모델을 이용한 솔잎 착즙액 첨가 설기떡의 지질개선 효과)

  • Lee, Yunjung;Park, Jae-Hee;Park, Eunju
    • Journal of Nutrition and Health
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    • v.52 no.1
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    • pp.6-16
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    • 2019
  • Purpose: Dyslipidemia is a major risk factor for cardiovascular disease. Pine needles (Pinus densiflora seib et Zucc) are a traditional medicine used to treat dyslipidemia in clinical settings. This study examined the potential effects of sulgidduk, a Korean traditional rice cake containing pine needle juice to protect against dyslipidemia induced by a high-fat/sugidduk diet in a rat model. Methods: Twenty one male Sprague-Dawley rats were divided randomly into three groups: normal control (NC), Sulgidduk diet (SD), Sulgidduk diet containing pine needle juice (PSD). The blood lipid levels, production of lipid peroxide in the plasma and liver, total cholesterol and triglyceride in the liver and feces, antioxidant enzyme activities in plasma and erythrocytes were measured to assess the effects of PSD on dyslipidemia. Results: A high-fat/Sulgidduk diet induced dyslipidemia, which was characterized by significantly altered lipid profiles in the plasma and liver. The food intake was similar in the three groups, but weight gain and food efficiency ratio (FER) were reduced significantly in the PSD group compared to those in the SD group. The level of total cholesterol, LDL-cholesterol and TBARS in the plasma showed tendencies to decrease in the PSD group compared to those in the SD group. The levels of high-fat/Sulgidduk diet-induced sterol regulatory element-binding protein 2 (SREBP2) gene expression were reduced significantly in the PSD group. The supplementation of PSD reduced the hepatic triglyceride and total cholesterol levels significantly, and enhanced the fecal excretion of triglyceride and hepatic antioxidant enzyme activities compared to the SD group. Conclusion: These results suggest that the addition of 0.4% pine needle juice to Sulgidduk may be an alternative snack to control dyslipidemia.

Evaluation of diet quality according to the eating-out patterns of preschoolers and school-aged children in South Korea: based on data from the 2016-2018 Korea National Health and Nutrition Examination Survey (우리나라 유아 및 학령기 아동의 외식패턴에 따른 식사의 질 평가: 2016-2018 국민건강영양조사 자료 활용)

  • Ju, Yu-na;Lee, Youngmi;Song, Kyunghee;Lee, Yujin
    • Journal of Nutrition and Health
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    • v.54 no.2
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    • pp.165-178
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    • 2021
  • Purpose: This study examined the eating-out patterns of Korean infants and school-aged children and compared diet quality. Methods: Data were obtained from the 2016-2018 Korea National Health and Nutrition Examination Survey. The subjects were 306 children aged 3 to 11 years old that ate dinner at restaurants. Percentage energy intakes of 24 food groups were calculated, and cluster analysis was used to identify eating-out patterns. Diet quality was assessed by calculating percentage energy and nutrient intakes using one-third of the 2015 Dietary Reference Intakes for Korean (KDRIs), nutrient adequacy ratio (NAR), mean adequacy ratio (MAR), and index of nutritional quality (INQ). Results: Cluster analysis identified 2 eating-out patterns, that is, a 'rice-centered' (53%) and a 'mixed diet' (47%) pattern. For those with the mixed diet pattern, ratios of carbohydrates, protein, and fat to total calories were 48:20:31, whereas for the rice-centered pattern, ratios were 62:15:21 (p < 0.001). Intakes of energy and most nutrients in the mixed diet pattern were excessive, but the intakes of the most nutrients in the rice-centered pattern were much lower than their KDRIs. MARs were higher for the mixed diet pattern than the rice-centered pattern (0.74 vs. 0.66) (p < 0.001), and INQs for vitamin C (p = 0.007) and calcium (p = 0.018) were lower for the rice-centered pattern, whereas INQ for iron (p = 0.003) was lower for the mixed diet pattern. Conclusion: The quality of meals for infants and school-aged children depended on eating-out patterns, but the rice-centered and mixed diet patterns both failed to provide an appropriately balanced meal pattern. The results of this study suggest that healthy menus need to be developed for children in restaurants.

Induction of Apoptosis by Water Extract of Glycyrrhizae radix in Human Bladder T24 Cancer Cells (인체 방광암 T24 세포에서 감초(Glycyrrhizae radix) 열수추출물에 의한 apoptosis 유도)

  • Lee, Ki Won;Kim, Jeong Il;Lee, Seung Young;Choi, Kyung-Min;Oh, Young Taek;Jeong, Jin-Woo
    • Korean Journal of Plant Resources
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    • v.32 no.4
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    • pp.255-263
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    • 2019
  • Glycyrrhizae radix is one of the most frequently prescribed ingredients in Oriental medicine, and Glycyrrhizae radix extract has been shown to exert anti-cancer effects. However, the cellular and molecular mechanisms of programed cell death (apoptosis) by Glycyrrhizae radix are poorly defined. In the present study, it was examined the molecular mechanisms of apoptosis by water extracts of Glycyrrhizae radix (GRW) in human bladder T24 cancer cells. It was found that GRW could inhibit the cell growth of T24 cells in a concentration-dependent manner, which was associated with the induction of apoptotic cell death, as evidenced by the formation of apoptotic bodies, DNA fragmentation and increased populations of annexin-V positive cells. The induction of apoptotic cell death by GRW was connected with an up-regulation of pro-apoptotic Bax protein expression and down-regulation of anti-apoptotic proteins (Bcl-2 and Bcl-xL), and inhibition of apoptosis family proteins (XIAP, cIAP-1 and cIAP-2). In addition, apoptosis-inducing concentrations of GRW induced the activation of caspase-9, an initiator caspase of the mitochondrial-mediated intrinsic pathway, and caspase-3, accompanied by proteolytic degradation of PARP. GRW also induced apoptosis via a death receptor-mediated extrinsic pathway by caspase-8 activation, resulting in the down-regulation of total Bid and suggesting the existence of cross-talk between the extrinsic and intrinsic pathways. Taken together, the present results suggest that GRW may be a potential chemotherapeutic agent for the control of human bladder cancer cells.