• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.72-79
• /
• 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.

• International Journal of Contents
• /
• v.14 no.1
• /
• pp.34-38
• /
• 2018

With the rapid growth of genomic data, new requirements have emerged that are difficult to handle with big data storage and analysis techniques. Regardless of the size of an organization performing genomic data analysis, it is becoming increasingly difficult for an institution to build a computing environment for storing and analyzing genomic data. Recently, cloud computing has emerged as a computing environment that meets these new requirements. In this paper, we analyze and compare existing distributed and parallel NGS (Next Generation Sequencing) analysis based on cloud computing environment for future research.

• Proceedings of the Korean Society of Applied Entomolohy Conference
• /
• 2001.11a
• /
• pp.136-136
• /
• 2001

• Proceedings of the Korean Society of Sericultural Science Conference
• /
• 2001.10a
• /
• pp.70-70
• /
• 2001

no Abstract, See Full Text

• The Korean Journal of Food And Nutrition
• /
• v.12 no.2
• /
• pp.184-190
• /
• 1999

Soybean protein consists of two major components $\beta$-conglycinin and glycinin which together consti-tute 70% of the total seed storage protein at maturity. $\beta$-Conglycinin is trimeric glycoprotein and for-med by the assembly of various combinations of three subunits $\alpha$,$\alpha$' and $\beta$ which have molecular weig-hts of 69,000, 72,000 and 42,000, respectively. Recently $\beta$-conglycinin was identified as powerful LDL lip-oprotein receptor activation hypercholesterolemia and major allergenic proteins. To investigate these reasons we constructed an expression system of cDNA encoding $\alpha$-subunit of $\beta$-conglycinin in Escherichia coli and purified the expressed protein. The pro-$\beta$-conglycinin synthesized in Escherichia coli BL 21 (DE3)comprised approximately 15% of the total bacterial proteins and the expressed protein are formed sol-uble and trimer such as native protein in Escherichia coli cells. The highly expressed protein was purified to homogeneity by salt precipitation with 20~40 % ammonium sulfate ion-exchange chromatography with Q-sepharose and hydrophobic column chromatography with Butyltoyopearl.

• Vacuum Magazine
• /
• v.5 no.1
• /
• pp.13-17
• /
• 2018

Phase transition is not unique to solid state systems or homogeneous molecular systems but it is also observed in highly heterogeneous biological systems. Phase transition and phase separation in cells are recently being found to be central to many biological functions by temporarily and locally controlling the storage and exchange of certain proteins and RNAs. There are also clues suggesting them to be playing pivotal roles in the spatial organization of chromosomes into topological domains and its time-dependent control. Here we introduce early efforts to explain at the molecular level how the spatiotemporal organization of chromosomes are programmed and modulated by the sequence and chemical modifications of the DNA. Continuing works may provide a physical framework to understand the molecular level control of chromosome structure and dynamics that determine the epigenetic state and the fate of the cells.

• Research in Plant Disease
• /
• v.20 no.2
• /
• pp.129-131
• /
• 2014

In February 2014, gray mold rotting symptoms were observed in carrots in cold storage at Gangneung, Gangwon province, Korea. The typical symptom of gray mold rot showed abundant blackish gray mycelia and conidia was observed on the infected root. The pathogen was isolated from infected root and cultured on PDA for further fungal morphological observation and confirming its pathogenicity according to Koch's postulates. Results of morphological data, pathogenicity test and rDNA internal transcribed spacer (ITS 1 and 4) sequence showed that the postharvest gray mold rot of carrot was caused by Botyrtis cinerea. This is the first report of postharvest gray mold rot on carrot in Korea.

• Journal of Microbiology and Biotechnology
• /
• v.14 no.1
• /
• pp.68-73
• /
• 2004

Ferritin is an iron storage protein found in most living organisms. For expression and industrial use, human light chain ferritin (L-ferritin) was cloned from human liver cDNA library and expressed in Pichia pastoris strain GS115. The recombinant L-ferritin in Pichia pastoris was glycosylated. In a fed-batch culture, the cell mass reached about 57 g/l of dry cell weight, and the L-ferritin in the cell was increased to about 95 mg/l after 150 h. In an atomic absorption spectrometry analysis, the intracellular content of iron in the L-ferritin transformant was measured as $1,694{\pm}85\;\mu\textrm{g}g/g$, which is 5.4-fold more than that of the control strain. This L-ferritin transformant could serve as iron-fortified nutrients in animal feed stock.

• Mycobiology
• /
• v.42 no.4
• /
• pp.409-411
• /
• 2014

In March 2014, a kohlrabi stem rot sample was collected from the cold storage room of Daegwallyong Horticultural Cooperative, Korea. White and fuzzy mycelial growth was observed on the stem, symptomatic of stem rot disease. The pathogen was isolated from the infected stem and cultured on potato dextrose agar for further fungal morphological observation and to confirm its pathogenicity, according to Koch's postulates. Morphological data, pathogenicity test results, and rDNA sequences of internal transcribed spacer regions (ITS 1 and 4) showed that the postharvest stem rot of kohlrabi was caused by Sclerotinia sclerotiorum. This is the first report of postharvest stem rot of kohlrabi in Korea.

• Proceedings of the Korean Society of Applied Entomolohy Conference
• /
• 2002.11a
• /
• pp.141-141
• /
• 2002