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A Study on the Screening of the Novel Genes Associated with Lysosomal Trafficking and Mutation Detection in Fibroblasts of the Patients with Mucolipidosis type II and III (리소좀 교통 이상을 초래하는 뮤코지방증 2형과 3형 환자의 섬유아세포를 이용한 신규 유전자 탐색 및 돌연변이에 대한 연구)

  • Song, Seng Mi;Chang, Soo Hee;Paik, Kyung Hoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.5 no.1
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    • pp.65-75
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    • 2005
  • Purpose: To understand genetic differences and similarities between mucolipidosis and control. Methods: Using the fibroblast of the mucolipidosis II and control, forward and reverse subtracted libraries were constructed. Among these clones, we investigated mutations in the GNPTA (MGC4170) gene, which codes for the ${\alpha}/{\beta}$ subunits of phosphotransferase, and in the GNPTAG gene, which codes for the ${\gamma}$ subunits in 5 Korean patients with mucolipidosis type II or IIIA. Result: Several differentially expressed cDNAs were cloned and their sequences were determined. Mutation analysis of the interested gene, GNPTA was performed and we identified 7 mutations in the GNPTA gene, but none in the GNPTAG gene. The mutations in type II patients included p.Q104X(c.310C>T), p.R1189X(c.3565C>T), p.S1058X(c.3173C>G), p.W894X(c.2681G>A) and p.H1158fsX15(c.3474_3475delTA), all of which are non-sense or frame shift mutations. However, a splicing site mutation, IVS13+1G>A (c.2715+1G>A) was detected along with a non-sense or a frame shift mutation (p.R1189X or p.E858fsX3(c.2574_2575delGA)) in two mucolipidosis type IIIA patients. Conclusion: This report shows that mutations in the GNPTA gene coding for the ${\alpha}{\beta}$subunits of phosphotransferase, and not mutations in the GNPTAG gene, account for most of mutations found in Korean patients with mucolipidosis type II or IIIA.

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Effects of Isoflavone Supplementation on Lipid Profiles and Antioxidant Systems in Rats Fed with Cholesterol Diet (고콜레스테롤 식이를 섭취한 흰쥐에서 이소플라본 보충이 혈청 지질패턴 및 항산화체계에 미치는 영향)

  • Kim, Soo-Yeon;Kim, Soon-Young;Chung, Chung-Eun;Yoon, Sun;Park, Jung-Hwa
    • Journal of Life Science
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    • v.20 no.11
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    • pp.1683-1690
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    • 2010
  • There is an increasing interest in the potential of isoflavone in reducing the risk of cardiovascular disease and cancer, however, although several effects of isoflavone as a component of soy protein are well established, the hypolipidemic and antioxidant effects of purified isoflavone are still controversial. This study was to investigate the effects of isoflavone on serum lipid profiles and antioxidant status in rats. 7-week old male Sprague Dawley rats were fed one of the following diets for 8 weeks: basal diet (B), basal+0.3% isoflavone (BI), basal+0.5% cholesterol (BC), or basal+0.3% isoflavone +0.5% cholesterol (BIC). Two-way ANOVA was used to test the effects of dietary isoflavone and cholesterol supplementation and their interaction on variables. Serum lipid profiles and total antioxidant status (TAS) were examined spectrophotometrically. Degree of serum lipid peroxidation was measured by malondialdehyde (MDA) assay. The activities of serum antioxidant enzymes (GSH-Px, total-SOD) was determined. Levels of serum total cholesterol, VLDL+LDL-cholesterol and Atherogenic index were significantly lower in BI than those levels in group B (p=0.0002, p<0.0001, and p=0.0042, respectively). Serum total antioxidant status (TAS) levels were significantly higher, in both isoflavone supplemented groups (BI, BIC) compared to those levels in each control group (B, BC) (p<0.0001). Activity of total-SOD was significantly higher in BI compared to the activities in group B (p=0.0317). There was no interaction between isoflavone and cholesterol supplementation. In conclusion, isoflavone supplementation showed positive effects on the serum lipid profiles and total antioxidant activities in both conditions, either when fed a diet with or without cholesterol. These effects of isoflavone were independent of cholesterol supplementation.

Studies on the Comparative Analysis of Immunofunction of Agaricus blazei Murill Cultivated with Fermented Media Containing Pueraria thunbergiana (칡혼합 발효배지로 생산된 신령버섯의 면역기능성 비교 분석에 관한 연구)

  • 김주남;서정식;박동철
    • Food Science and Preservation
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    • v.9 no.1
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    • pp.114-119
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    • 2002
  • This research was performed to investigate the immnomodulative effects of ploysaccharides extracted from the fruiting body of Agarcus blazei cultivated with the media which are fermented with sugar cane bagasse containing Pueraria thunbergiana in open-air storage. In MTT test, methanol extracts from the fruiting body of A. blazei cultivated with P. thunbergiana media showed in colon carcinoma line(HT29) by 1.5∼3.5 fold and human heptoma cell line (HepG2) by 1.3 ∼2.4 fold antitumor activites compared to two types media (rice straw plus sugar cane bagasse, rice straw only) often used in the fauns. To clarify the antimutagenic principles, three extracts, Ab-l, Ab-2 and Ab-3, were separated by the solvent fractionations such as hot water, cold & hot sodium hydroxide respectively, and their antimutagenic effects was determined against N-methyl-N'-nitro-N-cnitrso-guanidine(MNNG) using Salmonella typhymurium. There was no significant differencies of inhibition levels among the used media, but Ab-3 tractions still showed a high antimutagenicity in the Ames test regardless of cultivating areas or media. To prove the cell immunofunction, nitric oxide (NO) produced from Raw 264.7 matrophage cultured with three fractions (Ab-l, Ab-2, Ab-3) was measured, and showed generally increase about 45 ∼58 percent compared to another two media (rice straw plus sugar cane bagasse, rice straw only), in the fraction of hot alklai extracts of the fruiting body cultivated with P. thunbergiana, which means that the media selection could be very important factors for improving medicinal effects in agaricus blazei fruiting body.

STANDARDIZATION STUDY FOR THE KOREAN VERSION OF THE LURIA-NEBRASKA NEUROPSYCHOLOGICAL BATTERY FOR CHILDREN II : EVALUATION OF THE VALIDITY & CLINICAL UTILITY OF THE KOREAN VERSION OF LNNB-C (한국판 아동용 Luria-Nebraska 신경심리 검사의 표준화 연구 II : 타당도 및 임상적 유용성 검증)

  • Shin, Min-Sup;Hong, Kang-E
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.5 no.1
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    • pp.70-82
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    • 1994
  • Present study was to evaluate the validity and the clinical utility of the Korean version of Luria-Nebraska Neuropsychological Battery for Children(LNNB-C) in various groups including normal, brain damaged attention deficit hyperactivity disordered(ADHD), and psychiatrically disordered. The Korean version of LNNB-C and BGT were administered to clinical groups consisted of 51 patients(19 brain damaged, 16 ADHD. and 16 psychiatric controls), and to normal group composed of 147 children between the age of 8 and It Also KEDI-WISC was administered D clinical groups as a part of comprehensive psychological assessment There were significant differences between the brain damaged and the normals on all scales of LNNB-C, and between the normals and the ADHD on 11 clinical scales and 3 summary scales, which indicate the clinical validity for the scales of the Korean version of LNNB-C. The significant differences between the ADHD and the brain damaged on 3 summary scales were found, suggesting that the summary scales might play an important role id discriminating between two groups. Multiple discriminant analysis showed that the Korean version of LNNB-C significantly discriminates 3 groups - normals, ADHD, and brain damaged. Percentages of correct classification were ranged from 62.5% in the ADHD to 98.6Ta in the normals. For further evaluating the discriminant validity of the LNNB-C, the discriminant power of each items were calculated, and 131 of the 147 items discriminated significantly between the brain damaged and the normals. The scales of LNNB-C significantly correlated with the error scores of BGT and the most of scales of KEDI-WISC. These results put together : strongly support the concurrent and the discriminant validity of the Korean version of LNNB-C in diagnosing brain damage. The limitations of present study and several issues for the luther study were discussed.

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Effect of Thyroid Hormone on the Electrical Activity of Rabbit Heart (토끼심장의 전기적 활동에 대한 갑상선 호르몬의 영향)

  • Hong, Seong-Geun;Kwun, Jong-Kuk;Chung, Soon-Il
    • The Korean Journal of Physiology
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    • v.20 no.1
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    • pp.17-29
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    • 1986
  • The present study was carried out to observe the effect of triiodothyronine on heart, one of the target organ of thyroid hormone. There are many reports that tachycardia, arrythmia, and agumentation of sodium, potassium pump activity are caused in hyperthyroid animal. To examine these cardiac positive chronotropic effects on sinoatrial (SA) node and atrial muscle, hyperthyroid state was induced experimentally by the injecion of 3,3',5-1-triiodothyronine $(T_3)$ in $3{\sim}6$ month-old rabbits. Then intracellular recordings by inserting glass microelectrode into cell were obtained in SA node and atrial muscle. The results can be summarized as follows : 1) Heartbeat was increased from $169.6{\pm}28.0\;to\;264.2{\pm}18.0$ beats per minute, while body weight was decreased to 68f of the initial body weight (Day 1). 2) In experimental group, the duration of action potential at 80% repolarization was decreased from $148.0{\pm}29.1\;to\;107{\pm}13.6msec$. This suggested the increase heartbeat. 3) The firing rate in hyperthyroid group markedly reduced under the 15 mM potassium Tyrode (p<0.005). 4) In hyperthyroid group, depolarization of atrial muscle cell was lowered significantly in 15 mM (p<0.05), 20 mM (p<0.05) potassium Tyrode solution. 5) Sodium-potassium pump activities in experimental group were higher than those in control group in both SA node (p<0. 1) and atrial muscle (p<0.025). 6) In lower concentration of $MnCl_2$, the excitability of SA node in hyperthyroid group was decreased more than that in control group. Effective inhibitory dose $(ID_{50})$ as 0.6 mM in hyperthyroid statd and 1.1 mM in control group.

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Evaluation of confidence for measurement of VOCs in indoor air (실내공기질 VOCs 측정의 신뢰도 평가를 위한 연구)

  • Kim, Myoung Ock;Kim, Young Lan;Hong, Suk Young;Heo, Gwi Suk;Lim, Hyun Woo;Choe, Seoung Hun;Lee, Won Suk;Han, Jin Seok;Kim, Kum Hee
    • Analytical Science and Technology
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    • v.26 no.3
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    • pp.165-173
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    • 2013
  • To establishment of PT Program for Indoor air quality field that manufacture of confidential development PTMs (proficiency testing materials) and examined of proficiency testing evaluation included sampling process whether or not that is valid. Confirmation of homogeneity and stability of PTMs prepared. PTMs were confirmed to be homogeneous enough to be used as proficiency testing materials since withinbottle homogeneities of the RMs were lower than 0.3 times of targeted standard deviation of proficiency testing. The result of this study showed that the Robust RSD of proficiency testing for VOCs (volatile organic compounds) appeared 23~43% in concentration of 50~320 ${\mu}g/m^3$ for Method A(Distribution by adsorption in Tenax-tube of VOCs), but less 13~42% in concentration of 200~1200 ${\mu}g/m^3$, 16~31% in concentration of 100~450 ${\mu}g/m^3$ for Method B (distribution by VOCs of gas phase in 10L Tedalr bag), C (directly sampling of cylinder with high pressure) respectively. The result of this study showed that method C with sampling is most adequate to the proficiency testing for VOCs in indoor air.

Effect of Solvent Fractions from Doenjang on Antimutagenicity, Growth of Tumor Cells and Production of Interleukin-2 (된장 분획물의 항돌연변이 및 암세포 증식 억제효과와 interleukin-2 생성에 미치는 영향)

  • Kim, Kwang-Hyuk;Park, Kun-Young;Lee, Sook-Hee;Lim, Sun-Young
    • Journal of Life Science
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    • v.17 no.6 s.86
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    • pp.791-797
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    • 2007
  • We studied the inhibitory effect of solvent fractions from doenjang on mutagenicity using Salmonella typhimurium TA100 in Ames test. We also investigated the effect of solvent fractions from doenjang on the growth of tumor cells and the production of interleukin-2 (IL-2). The treatment of dichlorormethane and ethylacetate fractions (2.5 mg/assay) from doenjang to Ames test system inhibited aflatoxin B$_1$ (AFB$_1$) induced mutagenicity by 96% and 97%, respectively, and showed a higher antimutagenic effect than other solvent fractions. In case of N-methyl-N'-nitro-N-nitrosoguamidine (MNNG) induced mutagenicity, the ethylacetate fraction showed the highest inhibitory effect (by 75%) among the other sol-vent fractions, although the inhibitory effect was not stronger compared to AFB$_1$ induced mutagenicity. The treatment of dichloromethane and ethylacetate fractions markedly inhibited the growth of Yac-1 (by 80% and 94%, respectively) and sacroma-180 cancer cells (by 60% and 96%, respectively) after 4 days of incubation at 37${\circ}$C. To elucidate the immunological mechanism of antitumor activity of doenjang, spleen cells of Balb/c mouse were exposed to the dichloromethane and ethyl-acetate fractions for 24 hours at 37${\circ}$C . The culture supernatants following the treatment of djchloromethane and ethylacetate factions to spleen cells increased the production of IL-2. These results indicated that the anticarcinogenic effect of doenjang was mediated by the production of IL-2.

The Patterns of Change in Arterial Oxygen Saturation and Heart Rate and Their Related Factors during Voluntary Breath holding and Rebreathing (자발적 호흡정지 및 재개시 동맥혈 산소포화도와 심박수의 변동양상과 이에 영향을 미치는 인자)

  • Lim, Chae-Man;Kim, Woo-Sung;Choi, Kang-Hyun;Koh, Youn-Suck;Kim, Dong-Soon;Kim, Won-Dong
    • Tuberculosis and Respiratory Diseases
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    • v.41 no.4
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    • pp.379-388
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    • 1994
  • Background : In sleep apnea syndrome, arterial oxygen saturation($SaO_2$) decreases at a variable rate and to a variable degree for a given apneic period from patient to patient, and various kinds of cardiac arrythmia are known to occur. Factors supposed to affect arterial oxygen desaturation during apnea are duration of apnea, lung voulume at which apnea occurs, and oxygen consumption rate of the subject. The lung serves as preferential oxygen source during apnea, and there have been many reports related with the influence of lung volume on $SaO_2$ during apnea, but there are few, if any, studies about the influence of oxygen consumption rate of an individual on $SaO_2$ during breath holding or about the profile of arterial oxygen resaturation after breathing resumed. Methods : To investigate the changes of $SaO_2$ and heart rate(HR) during breath holding(BH) and rebreathing(RB) and to evaluate the physiologic factors responsible for the changes, lung volume measurements, and arterial blood gas analyses were performed in 17 healthy subjects. Nasal airflow by thermistor, $SaO_2$ by pulse oxymeter and ECG tracing were recorded on Polygraph(TA 4000, Gould, U.S.A.) during voluntary BH & RB at total lung capacity(TLC), at functional residual capacity(FRC) and at residual volume(RV), respectively, for the study subjects. Each subject's basal metabolic rate(BMR) was assumed on Harris-Benedict equation. Results: The time needed for $SaO_2$ to drop 2% from the basal level during breath holding(T2%) were $70.1{\pm}14.2$ sec(mean${\pm}$standard deviation) at TLC, $44.0{\pm}11.6$ sec at FRC, and $33.2{\pm}11.1$ sec at RV(TLC vs. FRC, p<0.05; FRC vs. RV, p<0.05). On rebreathing after $SaO_2$ decreased 2%, further decrement in $SaO_2$ was observed and it was significantly greater at RV($4.3{\pm}2.1%$) than at TLC($1.4{\pm}1.0%$)(p<0.05) or at FRC($1.9{\pm}1.4%$)(p<0.05). The time required for $SaO_2$ to return to the basal level after RB(Tr) at TLC was not significantly different from those at FRC or at RV. T2% had no significant correlation either with lung volumes or with BMR respectively. On the other hand, T2% had significant correlation with TLC/BMR(r=0.693, p<0.01) and FRC/BMR (r=0.615, p<0.025) but not with RV/BMR(r=0.227, p>0.05). The differences between maximal and minimal HR(${\Delta}HR$) during the BH-RB manuever were $27.5{\pm}9.2/min$ at TLC, $26.4{\pm}14.0/min$ at RV, and $19.1{\pm}6.0/min$ at FRC which was significantly smaller than those at TLC(p<0.05) or at RV(p<0.05). The mean difference of 5 p-p intervals before and after RB were $0.8{\pm}0.10$ sec and $0.72{\pm}0.09$ sec at TLC(p<0.001), $0.82{\pm}0.11$ sec and $0.73{\pm}0.09$ sec at FRC(p<0.025), and $0.77{\pm}0.09$ sec and $0.72{\pm}0.09$ sec at RV(p<0.05). Conclusion Healthy subjects showed arterial desaturation of various rates and extent during breath holding at different lung volumes. When breath held at lung volume greater than FRC, the rate of arterial desaturation significantly correlated with lung volume/basal metabolic rate, but when breath held at RV, the rate of arterial desaturation did not correlate linearly with RV/BMR. Sinus arrythmias occurred during breath holding and rebreathing manuever irrespective of the size of the lung volume at which breath holding started, and the amount of change was smallest when breath held at FRC and the change in vagal tone induced by alteration in respiratory movement might be the major responsible factor for the sinus arrythmia.

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