• 제목/요약/키워드: LEU

검색결과 682건 처리시간 0.03초

A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A

  • Kang, Sa-Yoon;Ko, Keun Hyuk;Oh, Jung-Hwan
    • Annals of Clinical Neurophysiology
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    • 제21권1호
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    • pp.57-60
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    • 2019
  • Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.

돼지 Melanocortin 4 Receptor (MC4R) 유전자의 육질연관성 분석 (Characterization and Evaluation of Melanocortin 4 Receptor (MC4R) Gene Effect on Pork Quality Traits in Pigs)

  • 노정건;김상욱;최정석;최양일;김종주;최봉환;김태헌;김관석
    • Journal of Animal Science and Technology
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    • 제54권1호
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    • pp.1-8
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    • 2012
  • 본 연구는 한국재래돼지의 MC4R 유전자 내의 단일염기변이들을 규명하고 그 유전자형 효과가 유전자표지인자를 이용한 선발(Marker assisted selection, MAS)에 활용 가능한지를 검증하기 위해서 수행되었다. 한국재래돼지의 MC4R 유전자 총 염기서열을 분석하기 위해 6개의 Primer들을 이용하여 증폭산물을 생성하였으며, 염기서열분석을 통해 총 6개(c.-780C>G, c-135C>T, c.175C>T-Leu59Leu, c.707A>G-Arg236His, c.892A>G-Asp298Asn, c.*430A>T)의 단일염기변이를 발견하였다. 한국재래돼지 MC4R 유전자내의 총 6개의 단일염기변이들간의 연관불균형과 반수체 분석을 통해 단일염기변이들간의 연관성을 분석하였으며, c.-780C>G, c-135C>T, c.175C>T-Leu59Leu, c.707A>G-Arg236His와 c.*430A>T는 완전한 연관불균형을 이루고 있었고, c.892A>G(Asp298Asn) 단일염기변이만 $r^2$-value가 0.028, D'-value가 0.348로 연관불균형 정도가 매우 낮았다. c.707A>G (Arg236His)와 c.892A>G (Asp298Asn) 단일염기변이들을 선발하여 PCR-RFLP 유전자형 분석방법을 이용해 돼지 5품종간의 유전자형 빈도를 추정한 결과, c.707A>G (Arg236His) 단일염기변이는 요크셔 품종 집단에서 오직 A (His) 대립유전자를 관찰할 수 있었으며, 나머지 한국재래돼지, 랜드레이스, 버크셔와 듀록 품종에서는 G 대립유전자의 고정으로 나타났다. c.707A>G 단일염기변이와 육질형질을 484두에서 연관성 분석을 실시한 결과, 조지방, 등심 내의 수분, 육색, 적색도 그리고 황색도 등에서 유의적인 연관성을 관찰할 수 있었다. c.892A>G (Asp298Asn) 단일염기변이의 유전자형 빈도는 품종별로 차이가 났으며, A (Asn) 대립유전자의 빈도가 가장 높은 품종은 듀록으로 나타났고, G (Asp) 대립유전자의 빈도가 가장 높은 품종은 한국재래돼지로 조사되었다. c.892A>G (Asp 298Asn) 단일염기변이와 돼지 4 집단의 육질형질을 1,126두에서 분석한 결과, 등지방두께에 고도의 유의적인 효과를 관찰할 수 있었다(P<0.002). AA 유전자형을 가진 개체가 AG나 GG 유전자형을 가진 개체보다 등지방두께가 두꺼운 것을 확인할 수 있었다. 본 연구의 결과를 통해 MC4R 유전자 내의 c.892A>G (Asp298Asn) 단일염기변이는 돼지의 선발개량에 유전자표지인자로서 충분한 효과가 있음을 검증하였다.

Construction of a Recombinant Leuconostoc mesenteroides CJNU 0147 Producing 1,4-Dihydroxy-2-Naphthoic Acid, a Bifidogenic Growth Factor

  • Eom, Ji-Eun;Moon, Gi-Seong
    • 한국축산식품학회지
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    • 제35권6호
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    • pp.867-873
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    • 2015
  • 1,4-Dihydroxy-2-naphthoic acid (DHNA), a precursor of menaquinone (vitamin K2), has an effect on growth stimulation of bifidobacteria and prevention of osteoporosis, making it a promising functional food material. Therefore, we tried to clone the menB gene encoding DHNA synthase from Leuconostoc mesenteroides CJNU 0147. Based on the genome sequence of Leu. mesenteroides ATCC 8293 (GenBank accession no., CP000414), a primer set (Leu_menBfull_F and Leu_menBfull_R) was designed for the PCR amplification of menB gene of CJNU 0147. A DNA fragment (1,190 bp), including the menB gene, was amplified, cloned into pGEM-T Easy vector, and sequenced. The deduced amino acid sequence of MenB (DHNA synthase) protein of CJNU 0147 had a 98% similarity to the corresponding protein of ATCC 8293. The menB gene was subcloned into pCW4, a lactic acid bacteria - E. coli shuttle vector, and transferred to CJNU 0147. The transcription of menB gene of CJNU 0147 (pCW4::menB) was increased, when compared with those of CJNU 0147 (pCW4) and CJNU 0147 (−). The DHNA was produced from it at a detectable level, indicating that the cloned menB gene of CJNU 0147 encoded a DHNA synthase which is responsible for the production of DHNA, resulting in an increase of bifidogenic growth stimulation activity.

동치미에서 분리한 Leuconostoc mesenteroides subsp. cremoris DLAB19의 배양조건에 따른 Aflatoxin B1에 대한 항돌연변이 효과 (Antimutagenic Effects against Aflatoxin B1 on Culture Conditions of Leuconostoc mesenteroides subsp. cremoris DLAB19 Isolated from Dongchimi)

  • 이창호;김정희;박희동
    • 한국식품저장유통학회지
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    • 제11권3호
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    • pp.405-410
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    • 2004
  • 동치미에서 분리한 유산균인 Leu. mesenteroides subsp.cremoris DLAB19 균주의 aflatoxin Bl에 대한 항 돌연변이원성 물질 생산을 위한 최적 조건을 조사한 결과, 탄소원으로 glucose를 첨가시 가장 높은 항 돌연변이 효과를 나타내었으며, 질소원으로서는 yeast extract 첨가시 항 돌연변이 효과가 우수하였다. 탄소원으로 glucose의 농도을 2$\%$ 첨가시aflatoxin Bl에 대한 항 돌연변이 효과가 가장 우수하였으며,질소원으로서 yeast extract 1$\%$ 첨가시 가장 우수한 항 돌연변이 효과를 나타내었다. 항 돌연변이원성 물질 생산을 위한 최적 배양 조건은 초기 pH, 배양 온도, 진탕 속도가 각각 7.0, 30$^{\circ}C$ 및 150 rpm이었다. 상기의 최적 조건에서 36시간 배양시 가장 높은 항 돌연변이 효과를 나타내었는데 S. enterica serovar Typhimurim TA100과 TA98을 이용한 경우항 돌연변이 효과가 87.11$\%$와 75.04$\%$이었다.

Isolation and Characterization of Kimchi Starters Leuconostoc mesenteroides PBio03 and Leuconostoc mesenteroides PBio104 for Manufacture of Commercial Kimchi

  • Lee, Kang Wook;Kim, Geun Su;Baek, A Hyong;Hwang, Hyun Sun;Kwon, Do Young;Kim, Sang Gu;Lee, Sang Yun
    • Journal of Microbiology and Biotechnology
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    • 제30권7호
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    • pp.1060-1066
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    • 2020
  • This study was focused on developing and obtaining a kimchi starter for use in commercial kimchi production. Kimchi varieties made with selected starters are of high quality, have high levels of mannitol, and extended shelf life. The starters were screened for properties such as mannitol production, low gas/acid production, and acid resistance. Finally, kimchi fermentation testing was performed using selected LAB starters. Kimchi samples were prepared with lactic acid bacteria (LAB) starters, including Leuconostoc mesenteroides PBio03 and Leuconostoc mesenteroides PBio104. The LAB starters are isolated from kimchi and can grow under pH 3.0 and low temperature conditions of 5℃. Four kimchi samples were fermented and stored for 28 days at 5℃. The kimchi samples made with starters (PBio03 and PBio104) had better quality (production of mannitol and maintenance of heterofermentative LAB dominance) than the non-starter kimchi samples. In the starter kimchi, Leu. mesenteroides was the dominant LAB, comprising 80% and 70% of total LAB counts at 7 and 21 days, respectively. Mannitol content of the kimchi with Leu. mesenteroides PBio03 was 1,423 ± 19.1 mg/100 g at 28 days, which was higher than that of the non-starter kimchi sample (1,027 ± 12.2 mg/100 g). These results show the possibility of producing kimchi with improved qualities using Leu. mesenteroides PBio03 and PBio104 as starters.

Theoretical Characterization of Binding Mode of Organosilicon Inhibitor with p38: Docking, MD Simulation and MM/GBSA Free Energy Approach

  • Gadhe, Changdev G.;Balupuri, Anand;Kothandan, Gugan;Cho, Seung Joo
    • Bulletin of the Korean Chemical Society
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    • 제35권8호
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    • pp.2494-2504
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    • 2014
  • P38 mitogen activated protein (MAP) kinase is an important anti-inflammatory drug target, which can be activated by responding to various stimuli such as stress and immune response. Based on the conformation of the conserved DFG loop (in or out), binding inhibitors are termed as type-I and II. Type-I inhibitors are ATP competitive, whereas type-II inhibitors bind in DFG-out conformation of allosteric pocket. It remains unclear that how these allosteric inhibitors stabilize the DFG-out conformation and interact. Organosilicon compounds provide unusual opportunity to enhance potency and diversity of drug molecules due to their low toxicity. However, very few examples have been reported to utilize this property. In this regard, we performed docking of an inhibitor (BIRB) and its silicon analog (Si-BIRB) in an allosteric binding pocket of p38. Further, molecular dynamics (MD) simulations were performed to study the dynamic behavior of the simulated complexes. The difference in the biological activity and mechanism of action of the simulated inhibitors could be explained based on the molecular mechanics/generalized Born surface area (MM/GBSA) binding free energy per residue decomposition. MM/GBSA showed that biological activities were related with calculated binding free energy of inhibitors. Analyses of the per-residue decomposed energy indicated that van der Waals and non-polar interactions were predominant in the ligand-protein interactions. Further, crucial residues identified for hydrogen bond, salt bridge and hydrophobic interactions were Tyr35, Lys53, Glu71, Leu74, Leu75, Ile84, Met109, Leu167, Asp168 and Phe169. Our results indicate that stronger hydrophobic interaction of Si-BIRB with the binding site residues could be responsible for its greater binding affinity compared with BIRB.

Intermediary Metabolism of Plasma Acetic Acid, Glucose and Protein in Sheep Fed a Rice Straw-based Diet

  • Alam, M.K.;Ogata, Y.;Sako, Y.;Al-Mamun, M.;Sano, H.
    • Asian-Australasian Journal of Animal Sciences
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    • 제23권10호
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    • pp.1333-1339
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    • 2010
  • The present study was conducted to determine plasma acetate, glucose and protein metabolism using dilution of isotopes [[1-$^{13}C$]Na acetate, [U-$^{13}C$]glucose and [1-$^{13}C$]leucine (Leu)] in sheep fed rice straw (Oriza japonica L.). Four sheep were assigned to either rice straw (RS-diet) or mixed hay (MH-diet) with a crossover design. Nitrogen (N) intake and N digestibility were lower (p = 0.002 and p = 0.02, respectively) for RS-diet than MH-diet, but N retention did not differ (p>0.10) between the diets. Concentrations of rumen acetate tended to be lower (p = 0.07), and propionate was higher (p = 0.02) for RS-diet than MH-diet. Concentrations of plasma lactate, non-esterified fatty acids, Leu and ${\alpha}$-ketoisocaproic acid did not differ (p>0.10) between the diets, but plasma glucose and urea concentrations were lower (p = 0.01 and p = 0.003, respectively) for RS-diet than MH-diet. Turnover rate of plasma acetate did not differ (p = 0.39) between the diets, and plasma glucose and Leu turnover rates were numerically lower (p = 0.15 and p = 0.14, respectively) for RS-diet than MH-diet. Whole body protein synthesis and degradation did not differ (p>0.10) between the diets. Thus it can be concluded that the intermediary metabolism of acetate, glucose and protein on rice straw is comparable to mixed hay in sheep.

살 오징어(Todarodes pacificus) 간췌장 유래 한외여과 Aminopeptidase Retentate Fraction의 특성과 쓴맛 개선효과 (Characteristics of Aminopeptidase Retentate Fraction from the Common Squid Todarodes pacificus Hepatopancreas Obtained by Ultrafiltration, and Its Lowering the Bitterness)

  • 김진수;이정석;윤인성;강상인;박선영;정우철;허민수
    • 한국수산과학회지
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    • 제53권1호
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    • pp.112-122
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    • 2020
  • This study investigated some enzymatic properties and bitterness improvement of an aminopeptidase retentate fraction (ARF) from common squid Todarodes pacificus hepatopancreas extract (HPE), obtained by ultrafiltration with a 10 kDa molecular weight cut off membrane. Endoprotease and aminopeptidase (AP) activity, and the purity of the ARF (>10 kDa) increased by 6.69-18.11 U/mg and 1.5-2.6 fold, respectively, compared to HPE (2.63-9.37 U/mg). The AP activity toward LeuPNA was stable at 20-55℃ and pH 5-9, but decreased slightly with increasing concentration of NaCl in the reaction mixture. The ARF was the most active MetPNA and preferentially hydrolyzed Glu, Leu and AlaPNA. The bitterness tryptic casein hydrolysates (BTCHs) were treated with ARF, and the bitterness of ARF-BTCHs significantly decreased with increasing amounts of released amino acids Ala, Val, Met, Ile and Leu, which show strong correlations with bitterness. Therefore, the ARF of T. pacificus HPE obtained by ultrafiltration may have a considerable potential for application in protein hydrolysis and appears to be ideally suited to the purpose of lowing bitterness in protein hydrolysates.