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AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III

  • Ko, Jung-Min;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.72-79
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    • 2007
  • Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

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Comparison in Seed and Sprout Quality under Different Cropping Patterns in Mungbean (재배방식에 따른 녹두 종실과 나물의 품질변화)

  • Kim, Dong-Kwan;Son, Dong-Mo;Choi, Jin-Gyung;Shin, Hae-Ryong;Chon, Sang-Uk;Lee, Kyung-Dong;Jung, Ki-Yeol;Rim, Yo-Sup
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.56 no.3
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    • pp.212-218
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    • 2011
  • This study was performed to determine the relative quality of mungbeans harvested in bulk after applying a labor-saving cultivation (LSC) method, compared to mungbeans harvested three different times under the conventional cultivation condition. There was no significant difference in starch, crude protein, and vitexin or isovitexin content of seed according to the cropping system or harvest time. The mungbeans grown under the LSC method had the highest crude fat content, followed by mungbeans from the third-, the second- and the first-harvest mungbeans under the conventional cultivation. No significant difference was found in the composite ratio of saturated fatty acids to unsaturated fatty acids according to cropping system or harvest time. The second-harvest mungbeans grown under the conventional cultivation condition had 17 different types of fatty acids, while the third-harvest mungbeans grown under the conventional cultivation and those grown under the LSC condition had the fewest types of fatty acids with 12. Of the major saturated fatty acids, palmitic acid and arachidonic acid had the highest composite ratio in the first conventional cultivation followed by the second, the third and the LSC. However, stearic acid showed the opposite tendency. Of the major unsaturated fatty acids, linoleic acid had the highest composite ratio in the first conventional cultivation, followed by the second and third conventional cultivation and the LSC. Amylogram characteristics of the mungbeans were significantly different according to cropping system and harvest times. The mungbeans harvested after the first conventional cultivation had significantly higher pasting temperature, peak viscosity, holding strength viscosity, final viscosity and breakdown, while mungbeans harvested after the third conventional cultivation had significantly higher setback viscosity. In contrast, the mungbeans harvested under the LSC methods had a significantly lower amylogram value. When harvest rate, color values and amino acid content of sprout were measured, mungbeans grown under the LSC conditions had a low harvest rate of sprout, but had Hunter's color values and amino acid content of sprout similar to those of mungbeans grown under the conventional cultivation condition.

Genetic Analysis of Natural Microflora in the Stored Joraengyi Rice Cake and Their Capability of Propionic Acid Production (조랭이 떡에 존재하는 자연균총 유전자 군집분석 및 천연유래 프로피온산 생성능 분석)

  • Park, Hee-Dae;Chae, Jung-Kyu;Ha, Sang-Do
    • Journal of Food Hygiene and Safety
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    • v.33 no.5
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    • pp.375-382
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    • 2018
  • This study was conducted to analyze the microbial community and propionic acid production ability of natural microflora in the rice cakes. Genetic analysis of natural microflora in Jorangyi rice cake was performed to select propionic acid - producing bacteria. Selected propionic acid-producing bacteria were cultivated in TSB (tryptic soy broth) supplemented with glucose, and growth characteristics were analyzed by temperature and production of propionic acid was analyzed by gas chromatography (GC-FID). Linearity, detection limit, quantitative limit, and recovery rate were measured to verify propionic acid assay. A total of 98 microbial strains were detected from microflora of Joraengyi rice cake that grew after expiration of shelf life. Lactobacillus casei group accounted for 50.48% and Lactobacillus buchneri was 29.60%. Propionic acid - producing bacteria were Propionibacterium thoenii, P. cyclohexanicum, Propionibacterium_uc, P. jensenii, and P. freudenreichii. Natural bacteria and Lactobacillus spp. did not produce propionic acid during 14 days but P. cyclohexanicum, P. freudenreichii subsp. Shermanii, P. thoenii and P. jesenii produced $263.47{\mu}g/mL$, $338.90{\mu}g/mL$, $325.43{\mu}g/mL$ and $222.17{\mu}g/mL$ during 4 days and 2,462.02 and 2,904.78, 2,220.64, $3,519.17{\mu}g/mL$ during 14 days. As a result of this study, it was affirmed that the natural microflora of Joraengyi rice cake during storage can produce propionic acid from natural sources even if a high concentration of propionic acid is not intentionally added. Because of characteristics of rice cake composed of starch and glucose. This study will be used as a recognition criterion to detect natural preservatives such as propionic acid in starchy foods such as rice cakes and as reference standard safety management data.

Changes in Chemical Composition of glutinous rice during steeping and Quality Properties of Yukwa (찹쌀의 수침 중 이화학적 특성변화와 유과의 품질특성)

  • Lee, Yong-Hwan;Kum, Jun-Seok;Ku, Kyung-Hyung;Chun, Hyang-Sook;Kim, Woo-Jung
    • Korean Journal of Food Science and Technology
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    • v.33 no.6
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    • pp.737-744
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    • 2001
  • This study was carried to investigate the changes in physical and chemical properties during preparation of Yukwa. Protein content of glutinous rice was decreased during soaking time and acid and pH values were increased while contents of lipid and ash were not changed. Particle size distribution showed thate average particle size of 7 days soaking treatment smaller than those of 3 days and starch damage of glutinous rice flour was increased during soaking time. The major flavor components after soaking were found ethyl ester acetic acid, ethanol, 2-butan -ol, 2-methyl 1-propanol, 1-butanol, 3-methyl 1-butanol and 1-pentanol, propanoic acid. Content of acetic acid and butanoic acid were rapidly increased during soaking time. Results for ratio of storage modulus(G') and loss modulus(G') in glutinous rice flour dough indicated $tan{\delta}$ was increased for a while and decreased as frequency increased. G' value was very similar with G' value after steaming which means rubber-like property while G' and G' value were changed after during storage time. Treatment at $-20^{\circ}C$ had the highest hardness for cutting degree of dough. There was no difference in color value between different water contents. Hardness of Bandegi (sheet) was decreased as water content increased and the highest popping value was obtained at 18% of water contents. Adding 3% soaked bean had higher redness value of Yukwa and lower value in yellowness.

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Studies on Processing ana Keeping Quality of Retort Pouched Foods (3) Preparation and Keeping Quality of Retort Pouched Fried Mackerel Meat Paste (레토르트파우치식품의 가공 및 품질안정성에 관한 연구 (3) 레토르트파우치 튀김어묵의 제조 및 저장중의 품질안정성)

  • LEE Eung-Ho;OH Kwang-Soo;KOO Jae-Geun;PARK Hyang-Suk;CHO Soon-Yeong;CHA Yong-Jun
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.17 no.5
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    • pp.373-382
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    • 1984
  • Processing conditions of retort pouched fried mackerel fish meat paste and quality stability during storage were investigated. The reasonable amounts of added ingredients to the frozen mackerel meat paste were $10\%$ of corn starch, $1\%$ of soybean protein, $1.5\%$ of sodium chloride, $0.6\%$ of monosodium glutamate, $0.3\%$ of alcoholic extract of red pepper, and $0.1\%$ of sodium erythorbate as an antioxidant and also added water corresponding to $10\%$ of the frozen mackerel meat paste. After grinding the defrosted mackerel fish meat paste with ingredients, the meat paste was molded in bar type and fried in soybean oil at $170-180^{\circ}C$ for 3 minutes. The fried mackerel meat paste was cooled, vacuum-packed in laminated plastic film bag (polyester/polyvinylidene chloride/unoriented polypropylene : $12{\mu}m/15{\mu}/50{\mu}m,\;14{\times}19cm$) and finally sterilized at $120^{\circ}C$ for 20 minutes in a hot water circulating retort. The pH, volatile basic nitrogen, moisture content, water activity, color, thiobarbituric acid value, peroxide value, texture and viable bacterial count of products were examined during 100 days of storage at $25{\pm}3^{\circ}C\;and\;5^{\circ}C$. The results showed that products could be preserved in good condition for 100 days at $25{\pm}3^{\circ}C$. Judging from sensory evaluation, the quality of products was not inferior to that of market products.

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Studies on the Standardization of Doenjang (Korean Soybean Paste) 1. Standardization of Manufacturing Method of Doenjang by Literatures (된장 제조방법의 표준화 연구 1. 문헌에 의한 된장 제조방법의 표준화)

  • 박건영;황경미;정근옥;이규복
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.31 no.2
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    • pp.343-350
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    • 2002
  • This study was conducted to standardize the manufacturing process of doenjang. The preparation methods, kinds and levels of the ingredients were determined by the statistical surveys of literatures obtained from cooking books, scientific papers and doenjang manufacturing factories. The standardized preparation of fermentation methods of doenjang were classified into two large groups, that were traditional and modified (commercialized) methods. Most soybeans used in doenjang preparation were the large size. To prepare traditional doenjang, soybeans were cleaned, scaled and cooked for 2 hrs at atmospheric pressure. These cooked soybeans were crushed in water and molded as brick shape. The molded soybean was dried for 2 days in the air, hung up by rice straw and fermented for 30~60 days under natural environmental condition (called meju). Recently soybean grain meju that inoculated with Asp. oryzae also frequently used to make traditional doenjang. The fermented meju was brined with a ratio of meju : salt : water = 18.4 : 14.6 : 67.0 and the meju-brine mixtures were ripened for 2 months. When the meju-brine mixture was fully fermented, it was separated into liquid and solid parts. The crushed solid part was further ripened in a separated pottery for 60 days and become doenjang. The liquid part was filtered, boiled and used as soy sauce. In modified commercial doenjang preparation, soybeans were cocked by autoclaving and then cooled about to 3$0^{\circ}C$. Separately, steamed barley grains or wheat flour were inoculated with 0.2% Asp. oryzae and incubated for 3 days at 3$0^{\circ}C$ and mixed with the crooked soybeans, salt, and water (soybean : salt : starch : water = 39.8 : 12.5 : 22.6 : 25.1). These mixtures were ripened for 30 days at 3$0^{\circ}C$. It seems that the manufacturing process of traditional doenjang needs to be more industrialized, whereas, the commercial doenjang preparation is going to adapt the traditional processing method of doenjang.

Evaluation of Methane Oxidation and the Production Potential of Soils in an Urban School (도심 학교 토양의 메탄 산화 및 생성 잠재력 평가)

  • Lee, Yun-Yeong;Kim, Tae Gwan;Ryu, Hee Wook;Cho, Kyung-Suk
    • Microbiology and Biotechnology Letters
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    • v.42 no.1
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    • pp.32-40
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    • 2014
  • Methane oxidation and the production potentials of ground soil (soil A) and garden soil (soil B, C, & D) in an urban school were evaluated, and the methanotrophic and methanogen communities in the soil samples were quantified using quantitative realtime PCR. The methanotrophic community in the raw soil A sample possessed a $6.1{\times}10^3$ gene copy number/g dry weight soil, whereas those in the raw soils B~D samples were $1.6-1.9{\times}10^5$ gene copy numbers/g dry weight soil. Serum bottles added with the soil samples were enriched with methane gas, and then evaluated for their methane oxidation potential. The soil A sample had a longer induction phase for methane oxidation than the other soils. However, soil A showed a similar methane oxidation potential with soils B~D after the induction phase. The methanotrophic community in the enriched soil A sample was increased by up to $2.3{\times}10^7$ gene copy numbers/g dry weight soil, which had no significantly difference compared with those in soils B~D ($1.2-2.8{\times}10^8$ gene copy numbers/g dry weight soil). Methane production showed a similar tendency to methane oxidation. The methanogens community in raw soil A ($1.7{\times}10^5$ gene copy number/g dry weight soil) was much less than those in raw soils B~D ($1.3-3.4{\times}10^7$ gene copy numbers/g dry weight soil). However, after methane gas was produced by adding starch to the soils, soil samples A~D showed $10^7$ gene copy numbers/g dry weight soil in methanogens communities. The results indicate that methanotrophic and methanogenic bacteria have coexisted in this urban school's soils. Moreover, under appropriate conditions for methane oxidation and production, methanotrophic bacteria and methanogens are increased and they have the potential for methane oxidation and production.

Effects of Additives on Quality Attributes of Minced Ginger During Refrigerated Storage (첨가물이 냉장 중 생강 다대기의 품질특성에 미치는 영향)

  • Choi, Min-Seek;Kim, Dong-Ho;Lee, Kyung-Hae;Lee, Young-Chun
    • Korean Journal of Food Science and Technology
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    • v.34 no.6
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    • pp.1048-1056
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    • 2002
  • Quality of fresh ginger deteriorates rapidly during low temperature storage, and its storage life is short due to sprouting and microbial spoilage. The objectives of this research were to develop, using additives, a minced ginger product, which could maintain acceptable quality for over 30 days, and to investigate its quality changes during the cold storage. Storage stability of minced ginger product was investigated from the standpoint of the inhibition of brown discoloration, gas formation and liquid-solid separation. Fresh ginger was peeled and ground to produce minced ginger (control). Sodium bisulfite, L-cysteine, NaCl, sodium benzoate, modified starch, and/or xanthan gum were added to the control to minimize quality loss during storage, and to develop an optimum formula (A) of minced ginger. Samples were packed in Nylon/PE films, stored at $5^{\circ}C$, sampled at a 30-day interval, and subjected to quality evaluations. Changes in pH, surface color, gas formation, liquid-solid separation, contents of free amino acids, free sugars, organic acids, and fatty acids were determined. Gas formation was effectively inhibited in samples with sodium benzoate and/or NaCl. Samples with xanthan gum did not result in liquid-solid separation. L-Cysteine and sodium bisulfite were effective in controlling discoloration. pH decreased during storage in all samples, except sample A. Organic acid contents of all samples increased during storage, with lactic acid content showing the highest increase. Free amino acid content decreased with increasing storage time. Free sugar content of all samples decreased during storage. Sensory results showed sample A maintained acceptable quality until 90 days of storage. These results suggest that quality of minced ginger could be successfully maintained with the additions of selected additives for up to 90 days.

Fermentation Conditions for High Acceptability of Korean Traditional Fermented Beverage Kyejang (전통 발효음청류 계장의 기호도 우수 발효조건)

  • Jung, Jin-Kyoung;Song, Kyung-Mo;Yi, Sung-Hoon;Kim, Hyo-Jin;Han, Young-Sook;Lee, Myung-Ki
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.44 no.1
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    • pp.137-144
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    • 2015
  • Kyejang is a Korean traditional beverage manufactured from medicinal plants and fruits using honey, sugar, or starch in cold water. In this study, cinnamon-containing kyejang, which is a type of beverage Jang, was reproduced based on Imwonsibyukji's method published in 1827 in the Korean literature. Kyejang made by nuruk, cinnamon, and medicinal plants was prepared at various temperatures and periods. Kyejang was assayed for physiochemical properties (pH and acidity), contents of metabolites (organic acids, sugars, and amino acids), and sensory characteristics (aroma and taste). During fermentation, content of organic acids (e.g. lactic acid, acetic acid, and shikimic acid) increased, which lowered pH, increased acidity, and increased intensity of sour taste. In the case of free sugars, fructose and maltose levels decreased while glucose and mannitol levels increased during fermentation periods, and sweetness decreased. The main amino acid in kyejang was tryptophan, followed by asparagine, proline, and arginine. The sensory evaluation score of overall preference was highest for kyejang which was fermented at $20^{\circ}C$ for 3 days. The results will be provide the basic data of fermentation conditions for standardized manufacturing process of kyejang.

Isolation of Agarivorans sp. JS-1 and Characterization of Its β-Agarase (한천분해세균 Agarivorans sp. JS-1의 분리 및 β-아가라제의 특성 규명)

  • Jin Sun Kim;Dong-Geun Lee;Go-Wun Yeo;Min-Joo Park;Sang-Hyeon Lee
    • Journal of Life Science
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    • v.33 no.4
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    • pp.357-362
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    • 2023
  • This report looks at an agar-degrading marine bacterium and characterization of its agarase. Agar-degrading marine bacterium JS-1 was isolated with Marine agar 2216 media from seawater from the seashore of Sojuk-do, Changwon in Gyeongnam Province, Korea. The agar-degrading bacterium was named as Agarivorans sp. JS-1 by phylogenetic analysis based on 16S rRNA gene sequencing. The extracellular agarase was prepared from the culture media of Agarivorans sp. JS-1 and used for characterization. Relative activities at 20℃, 30℃, 35℃, 40℃, 45℃, 50℃, 55℃, and 60℃ were 70%, 74%, 78%, 83%, 87%, 100%, 74%, and 66%, respectively. Relative activities at pH 5, 6, 7, and 8 were 91%, 100%, 90%, and 89%, respectively. Its extracellular agarase showed maximum activity (207 units/l) at pH 6.0 and 50℃ in 20 mM Tris-HCl buffer. The residual activity after heat treatment at 20℃, 30℃, and 50℃ for 30 minutes was 90%, 70%, and 50% or more, respectively. After a 2-hour heat treatment at 20℃, 30℃, 35℃, 40℃, and 45℃, the residual activity was 80%, 68%, 65%, 63%, and 57%, respectively. At 50℃ and above, after heat treatment for 30 minutes, the residual activity was below 60%. Thin layer chromatography analysis suggested that Agarivorans sp. JS-1 produces extracellular β-agarases as they hydrolyze agarose to produce neoagarooligosaccharides such as neoagarohexaose (20.6%), neoagarotetraose (58.5%), and neoagarobiose (20.9%). Agarivorans sp. JS-1 and its thermotolerant β-agarase would be useful in the production of neoagarooligosaccharides, showing functional activity such as inhibition of bacterial growth and delay of starch degradation.