• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Journal of the Korean Institute of Telematics and Electronics
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• v.26 no.2
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• pp.94-101
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• 1989

Transport properties of 2DEG at AlGaAs/GaAs interface such as average electron energy, flight distance, each valley occupancy ratio, average electron velocity for various fields are investigated by MONTE-CARLO method. As the electric field increases, more electrons transit drastically from (000) valley to (000) upper valley. This phenomenon shows the nonstationary effect such as velocity overshoot. The duration of the transient decreases from about 1.4 psec for electric field E = 7KV/cm to about 0.7 psec for 12KV/cm. The average electron velocity during transient transport in 2DEG is about 8 times the steady-state velocity for E = 12KV/cm at room temperature. In comparison with bulk GaAs the peak velocity in the 2DEG is higher than that in even pure bulk GaAs at electric field E = 7 KV/cm. On the basis of the fact that the electrons in the 2DEG have larger peak velocity and shorter transient time of velocity than those in the bulk GaAs, it is suggested that the device with 2DEG may obtain higher mobility than that with bulk GaAs.

• Journal of Chest Surgery
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• v.36 no.1
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• pp.15-20
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• 2003

Myasthenia gravis is a rare autoimmune disease involving acetylcholine receptor and its autoantibody on neuromuscular junction. The methods of treatment are medical treatment and surgical thymectomy. In this paper we analyzed the result of thymectomy and the factors affecting the postoperative symptom improvement. Material and method : This study obtained medical records of 37 patients who received the thymectomy for myasthenia gravis from March 1986 to December 1998. Result Out of 37 cases, 21 cases(57%) showed improvement, of which 8 cases (50%) in the group of thymoma(n=16), and 13 cases (62%) in the group of thymic hyperplasia(n=21) showed the improvement of symptoms. Postoperative complications were respiratory insufficiency due to aggravation of symptoms after operation, including tracheal intubation for ventilator support in 9 cases, pneumonia in 3 cases, pneumothorax in 2 cases and left vocal cord palsy in 1 case. There was one postoperative mortality. The relation between postoperative improvement and sex(P=0.3222), age(P=0.7642), thymic pathologic variants,(P=0.4335) and classification of thymoma(P=0.20) showed no statistically significant correlation. However, the lower grade of preoperative symptoms can predict the lower grade of postoperative symptoms significantly(P=0.0032). Follow up study to 36 postoperative survivors was performed in October 2002 based on the out-patient records and call with patients. Out of 36 cases, 33 cases(91.7%) could be investigated and 3 cases could not. Mean follow up period was 83.2 months. Out of 33 cases, 25 cases(75.8%) showed symptomatic improvement, of which 8 cases(53.3%) in the group of thymoma(n=15) and 17 cases(94.4%) in the group of thymic hyperplasia(n=18) showed the improvement of$\boxUl$ symptoms. Conclusion : In myasthenia gravis, thymectomy showed the good improvement, and more important factor affecting the improvement of symptoms was the grdae of preoperative symptoms. Also midterm and long term follow up results showed good symptomatic improvement.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.135-141
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• 2014

Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.

• Korean Journal of Microbiology
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• v.51 no.1
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• pp.39-47
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• 2015

Secondary metabolism in actinomycetes has been known to be controlled by a small molecule, ${\gamma}$-butyrolactone autoregulator, the binding of which to each corresponding receptor leads to the regulation of the transcriptional expression of the secondary metabolites. We expected that expression of an autoregulator receptor or a pleiotropic regulator in a non-host was to be gained insight of effective production of new metabolic materials. In order to study the function of the receptor protein (seaR), which is isolated from Saccharopolyspora erythraea, we introduced the seaR gene to Streptomyces coelicolor A3(2) as host strains. An effective transformation procedure for S. coelicolor A3(2) was established based on transconjugation by Escherichia coli ET12567/pUZ8002 with a ${\varphi}C31$-derived integration vector, pSET152, which contained int, oriT, attP and $ermEp^*$ (erythromycin promotor). Therefore, the pEV615 was introduced into S. coelicolor A3(2) by conjugation and integrated at the attB locus in the chromosome of the recipients by the ${\varphi}C31$ integrase (int) function. Exconjugant of S. coelicolor A3(2) containing the seaR gene was confirmed by PCR and transcriptional expression of the seaR gene in the transformant was analyzed by RT-PCR. In case of S. coelicolor A3(2), a phenotype microarray was used to analyze the phenotype of transformant compared with wild type by seaR expression. After that, in order to confirm the accuracy of the results obtained from the phenotype microarray, an antimicrobial susceptibility test was carried out. This test indicated that sensitivity of the transformant was higher than wild type in tetracycline case. These results indicated that some biosynthesis genes or resistance genes for tetracycline biosynthesis in transformant might be repressed by seaR expression. Therefore, subsequent experiments, analysis of transcriptional pattern of genes for tetracycline production or resistance, are needed to confirm whether biosynthesis genes or resistance genes for tetracycline are repressed or not.

• Journal of Nutrition and Health
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• v.49 no.6
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• pp.401-410
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• 2016

Purpose: Water is magnetically charged upon contact with a magnet. Although magnetic water products have been promoted since the 1930's, they have not received wide acceptance since their effectiveness is still in question; however, some have reported their therapeutic effects on the body, especially the digestive, nervous, and urinary systems. Methods: In this study, the effect of magnetized water on glycemic control of 14 diabetic mice (CB57BK/KsJ-db/db) in comparison with 10 control mice (CB57BK/KsJ-db/+(db/+)) was investigated. Seven diabetic control (DMC) mice and seven diabetic mice + magnetized water (DM+MW) were kept for 16 weeks, followed by intraperitoneal glucose tolerance test (IPGTT). Weekly blood glucose was measured from tail veins. Blood obtained from heart puncture was used for HbA1c analysis. Results: Blood glucose level showed a significant difference starting from the $10^{th}$ week of study ($496.1{\pm}10.2mg/dl$ in DMC vs. $437.9{\pm}76.9mg/dl$ in DM+MW). Blood glucose followed by IPGTT showed no significant difference between groups at 0, 30, 60, 90, and 120 min, although glucose level at 180 min was significantly reduced in DM+MW mice. Plasma insulin level in DM+MW groups was only 39.5% of that of DMC groups ($5.97{\pm}1.69ng/ml$ in DMC vs. $2.36{\pm}0.94ng/ml$ in DM+MW). Levels of HbA1c were 12.4% and 9.7% in DMC and DM+MW groups, respectively. Conclusion: These results show the promising therapeutic effect of magnetized water in regulating blood glucose homeostasis; however, long-term supplementation or mechanistic study is necessary.

• Journal of Periodontal and Implant Science
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• v.35 no.3
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• pp.661-674
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• 2005

The purpose of this study was to quantify and compare the level of MMP-2, MMP-8 in the healthy, inflammed gingival tissue and inflammed gingival tissue associated with type 2 DM. We investigate whether expression of MMP-2, MMP-8 is increased by chronic periodontitis associated with type 2 DM. Gingival tissue samples were obtained during periodontal surgery or tooth extraction. Based on patient's systemic condition & clinical criteria of gingiva, each gingival samples were divided into three groups. Group l(n=8) is clinically healthy gingiva without bleeding and no evidence of bone resorption or periodontal pockets, obtained from 8 systemically healthy patients. Group 2(n=8) is inflammed gingiva from patients with chronic periodontitis. Group 3(n=8) is inflammed gingiva from type 2 diabetic patients with chronic periodontitis. Tissue samples were prepared and analyzed by Western blotting. The quantification of MMP-2, MMP-8 was performed using a densitometer and statistically analyzed by ANOVA. MMP-2, MMP-8 was expressed in all samples including healthy gingiva and increased in group 3 compared to group 1 and 2, and showed that significant variation was observed between group 1 & 3 in MMP-8 results. In conclusion, this study demonstrated that human gingival tissue with chronic periodontitis associated to type 2 diabetes showed slightly elevated MMP-2, MMP-8 levels compared to healthy gingiva and non-diabetic inflamed gingiva.

• Journal of Life Science
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• v.22 no.12
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• pp.1644-1650
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• 2012

The aim of this study was to screen the polymorphisms and distribution of each genotype of insertion/ deletion (indel) markers which were found in a preliminary comparative study of bovine genomic sequence databases. Comparative bioinformatic analyses were first performed between the nucleotide sequences of Bovine Genome Project and those of expressed sequence tag (EST) database, and a total of fifty-one species of indel markers were screened. Of these, forty-two indel markers were evaluated, and nine informative indel markers were ultimately selected for population analysis. Nucleotide sequences of each marker were re-sequenced and their polymorphic patterns were typed in six cattle breeds: Holstein, Angus, Charolais, Hereford, and two Korean native cattle breeds (Hanwoo and Jeju Black cattle). Cattle breeds tested in this study showed polymorphic patterns in eight indel markers but not in the Indel-15 marker in Charolais and Holstein. The results of analysis for Jeju Black cattle (JBC) population indicated an observed heterozygosity (Ho) that was highest in HW_G1 (0.600) and the lowest in Indel_29 (0.274). The PIC value was the highest in HW_G4 (0.373) and lowest in Indel_6 (0.305). These polymorphic indel markers will be useful in supplying genetic information for parentage tests and traceability and to develop a molecular breeding system for improvement of animal production in cattle breeds as well as in the JBC population.

• Journal of Plant Biotechnology
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• v.29 no.3
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• pp.151-159
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• 2002

Genetic map and molecular marker have a great importance in improving and facilitating crop breeding program as well as in genome analysis and map-based cloning of genes representing desirable characters. This study aimed at developing RAPD markers and constructing a genetic linkage map using 82 BC$_1$F$_1$individuals originated from the cross between '835' and B$_2$in radish (Raphanus sativus L.). One of the parents for genetic linkage map construction, '835'(P$_1$) of egg type is susceptible to Fusarium wilt and have medium resistance to virus infection and the other parent, B$_2$(P$_2$) of round type, is susceptible to Fusarium wilt and virus, Screening of 394 RAPD primers in BC$_1$F$_1$) population resulted in selecting 128 polymorphic markers which displayed 1:1 segregation pattern. Two markers failed to display 1:1 segregation and showed the segregation ratio skewed to maternal genotype. Selected markers were categorized into 14 linkage group based on LOD score represented by MAPMAKER/EXP program. Five groups composed of single marker among them were excluded from the linkage map, and consequently, the remaining groups are well matched with the number of radish chromosome (n＝9). The linkage map constructed with 128 markers covers 1,688.3 cM and the average distance between markers was 13.8 cM. For developing STS marker, we determined the partial nucleotide sequence of OPE10 marker at both ends and designed a oligonucleotide primer pair based on this sequence. STS PCR using the primer pair displayed a single, clear band of which segregation is perfectly matched with that of OPE10 marker. This implies that RAPD markers could readily convert into clear and reliable STS markers.

• Korean Journal of Breeding Science
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• v.49 no.3
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• pp.235-244
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• 2017

'Manbaek' is a bacterial blight resistant mid-late maturing rice cultivar with high grain quality. 'Manbeak' was derived from anther culture using the backcross combination, $Hopum^*2/SR30075$. 'Hopum' is a mid-late maturing rice cultivar with high grain quality and 'SR30075' is a pyramid line carrying three bacterial blight resistance genes. 'Manbaek' was selected through the pedigree method, yield trials, and local adaptability tests. 'Manbeak' carrying two bacterial blight resistance gene Xa3 and xa5 showed high-level and broad-spectrum resistance against bacterial blight. 'Manbaek' was resistant to K3a, mostly virulent race in Korea, and exhibited resistance reaction against 16 Korean bacterial blight isolates. 'Manbaek' was a mid-late maturing rice. The heading date of 'Manbaek' was August 19th, which was 5 days later than that of 'Nampyeong'. Manbaek' was a lodging-tolerant rice with short culm and dark green leaf. Due to the low viviparous germination, 'Manbaek' could be a useful material to prevent pre-harvest sprouting. 'Mabeak' was resistant to bacterial blight and rice stripe virus, but susceptible to other virus diseases and insect pests. The yield of 'Manbaek' was similar to 'Nampyeong'. 'Manbaek' showed excellent grain appearance and good tastes of cooked rice, so that it could contribute to improving the quality of bacterial blight resistant cultivars. 'Manbaek', bacterial blight resistant cultivar with high grain quality, is suitable for the cultivation at bacterial blight prone area and has been utilized in the breeding programs for enhancing the resistance against bacterial blight (Registration No. 6069).