• The Korean Journal of Physiology and Pharmacology
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• v.19 no.4
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• pp.319-325
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• 2015

Among solute carrier proteins, the organic anion transporters (OATs) play an important role for the elimination or reabsorption of endogenous and exogenous negatively charged anionic compounds. Among OATs, SLC22A9 (hOAT7) transports estrone sulfate with high affinity. The net decrease of estrogen, especially in post-menopausal women induces rapid bone loss. The present study was performed to search the SNP within exon regions of SLC22A9 in Korean females with osteoporosis. Fifty healthy controls and 50 osteoporosis patients were screened for the genetic polymorphism in the coding region of SLC22A9 using GC-clamped PCR and denaturing gradient gel electrophoresis (DGGE). Six SNPs were found on the SLC22A9 gene from Korean women with/without osteoporosis. The SNPs were located as follows: two SNPs in the osteoporosis group (A645G and T1277C), three SNPs in the control group (G1449T, C1467T and C1487T) and one SNP in both the osteoporosis and control groups (G767A). The G767A, T1277C and C1487T SNPs result in an amino acid substitution, from synonymous vs nonsynonymous substitution arginine to glutamine (R256Q), phenylalanine to serine (F426S) and proline to leucine (P496L), respectively. The Km values and Vmax of the wild type, R256Q, P496L and F426S were 8.84, 8.87, 9.83 and $12.74{\mu}M$, and 1.97, 1.96, 2.06 and 1.55 pmol/oocyte/h, respectively. The present study demonstrates that the SLC22A9 variant F426S is causing inter-individual variation that is leading to the differences in transport of the steroid sulfate conjugate (estrone sulfate) and, therefore this could be used as a marker for certain disease including osteoporosis.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.4
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• pp.1999-2006
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• 2016

Background: Acute promyelocytic leukemia (APML) is characterized by the reciprocal translocation t(15;17) (p22;p12) resulting in the PML-$RAR{\alpha}$ fusion gene. A dual diagnostic and follow up approach was applied including cytogenetic demonstration of the t(15;17) translocation and detection dg PML-$RAR{\alpha}$ chimeric transcripts by molecular means. Purpose: Conventional cytogenetics involving bone marrow is beset with high probability of poor metaphase index and was substituted with phytohemagglutinin (PHA)-induced peripheral blood culture based cytogenetic analysis as a diagnostic & follow up modality in APML patients of Kashmir (North India). Both qualitative (RT-PCR) and quantitative (Q-PCR) tests were simultaneously carried out to authenticte the modified cytogenetics. Materials and Method: Patient samples were subjected to the said techniques to establish their baseline as well as follow-up status. Results: Initial cytogenetics revealed 30 patients (81%) Positive for t(15;17) whereas 7 (19%) had either cryptic translocation or were negative for t(15;17). Two cases had chromosome 16q deletion and no hallmark translocation t(15;17). Q-PCR status for PML-$RAR{\alpha}$ was found to be positive for all patients. All the APML patients were reassessed at the end of consolidation phase and during maintenance phase of chemotherapy where 6 patients had molecular relapse, wherein 4 also demonstrated cytogenetic relapse. Conclusions: It was found that PHA-induced peripheral blood cytogenetics along with molecular analysis could prove a reliable modality in the diagnosis and assessment of follow up response of APML patients.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.22 no.6
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• pp.188-196
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• 2021

For the tactical vehicles operated by the Korean army, the hub-reduction portal axle was applied considering Korea's topographical characteristics. Hub-reduction was applied to a Korean military vehicle to increase the vehicle body to secure ground clearance and improve the driving capability on rough roads, such as unpaved and field land by increasing the torque. The Korean military is operating tactical vehicles after various performance tests, including durability driving, but wheel damage occurred in one of the vehicles operating in the front units. Failure analysis revealed many damaged parts, including the hub, making it difficult to determine the cause. Therefore, an analysis of the failure occurrence mechanism for each damaged part was conducted, which confirmed that the cause of wheel breakage was a hub. Furthermore, the root cause of the hub breakage was a crack due to internal pores and foreign matters. In addition, a realistic improvement plan that can be applied throughout the design, manufacture, and shipping stages was presented using the fishbone diagram analysis. The derived improvement plan was verified through unit performance tests, including CAE and actual vehicle tests, and by reflecting this, the driving safety of Korean tactical vehicles was improved. Finally, it is expected that the proposed method for analyzing the failure occurrence mechanism will be used as reference material when analyzing the quality problems of similar military vehicles in the future.

• BMB Reports
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• v.51 no.5
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• pp.249-254
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• 2018

Natural pterocarpan Medicarpin (Med) has been shown to have various beneficial biological roles, including inhibition of osteoclastogenesis, stimulation of bone regeneration and induction of apoptosis. However, the effect of the Med on lipolysis in adipocytes has not been reported. Here, we show the effect of Med on lipolysis in different mouse adipocytes and elucidate the underlying mechanism. We observed that Med treatment promoted release of glycerol in the media. Differentiated mouse brown adipose tissue cells were treated with Med. RNA-Seq analysis was performed to elucidate the effect of med and subsequently was confirmed by qRT-PCR and western blotting analyses. Med treatment increased both protein and gene expression levels of hormone-sensitive lipase (Hsl) and adipose triglyceride lipase (Atgl), which are two critical enzymes necessary for lipolysis. Mechanistic study showed that Med activates Protein Kinase A (PKA) and phosphorylates Hsl at PKA target position at $Serine^{660}$. Silencing of PKA gene by short interfering RNA attenuated the Med-induced increase in glycerol release and Hsl phosphorylation. The results unveil that Med boosts lipolysis via a PKA-dependent pathway in adipocytes and may provide a possible avenue of further research of Med mediated reduction of body fat.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.58-62
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• 2006

Gaucher disease is an inherited disorder due to a deficiency in the activity of glucocerebrosidase (EC. 3.2.1.45) by genetic mutation which resulted from missense, nonsense, frameshift, deletion in long arm 21 of chromosome 1 (1q21). Gaucher disease is classified into the main three types as type 1 (nonneuronopathic), type 2 (acute neuronopathic) and type 3 (subacute neuronopathic) according to the progressive phase of manifestations and nervous system involvement. Gaucher disease patients had been treated by using the method as splenectomy and bone marrow transplantation. But enzyme replacement therapy as a more effective treatment has been available since the early 1990's. In order to treat Gaucher disease efficiently by using ERT, it is necessary to chase the progress of the therapy. In this study, therefore, we tried to chase the progress of the ERT by using the measurement of chitotriosidase activity in Gaucher disease patients.

• Genomics & Informatics
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• v.12 no.4
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• pp.225-230
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• 2014

Platelets are derived from the fragments that are formed from the cytoplasm of bone marrow megakaryocytes-small irregularly shaped anuclear cells. Platelets respond to vascular damage, contracts blood vessels, and attaches to the damaged region, thereby stopping bleeding, together with the action of blood coagulation factors. Platelet activation is known to affect genes associated with vascular risk factors, as well as with arteriosclerosis and myocardial infarction. Here, we performed a genome-wide association study with 352,228 single-nucleotide polymorphisms typed in 8,842 subjects of the Korea Association Resource (KARE) project and replicated the results in 7,861 subjects from an independent population. We identified genetic associations between platelet count and common variants nearby chromosome 4p16.1 ($p=1.46{\times}10^{10}$, in the KIAA0232 gene), 6p21 ($p=1.36{\times}10^{-7}$, in the BAK1 gene), and 12q24.12 ($p=1.11{\times}10^{-15}$, in the SH2B3 gene). Our results illustrate the value of large-scale discovery and a focus for several novel research avenues.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.14-22
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• 2012

Objectives: This study was performed to review clinical manifestations of hyperphenylalaninemia patients in Korean. Methods: 178 cases of hyperphenyalaninemia were diagnosed at department of pediatrics, Soonchunhyang University Hospital from January, 1983 to August. We reviewed DNA analysis, MR imaging, EEG, radiography of the left hand and wrist, bone densitometry (BMD), IQ test of hyperphenyalaninemia patients. Results: Out of 178 cases, 161 cases were diagnosed classic phenylketonuria and 17 cases were diagnosed BH4 deficiency. 122 cases performed DNA analysis. R243Q (10.3%), Y204C (9.9%), and IVS4-1G>A (8.1%) mutations were predominant. 22 cases underwent MR imaging. Varying degrees of symmetrical high signal intensity were noted on T2-weighted sequences in the periventricular deep white matter of 15 cases. 23 cases were performed EEG. 12 cases (52.3%) showed abnormal pattern. EEG abnormalities showed in 11 cases. On lumbar BMD four of 11 cases (36%) showed reduced bone density of more than 1 S.D. in four of 11 cases, bone age was less than chronological age by at least one year. 18 cases were performed IQ test. Mean IQ scores was $84{\pm}21.6$. Among older than 15 years (9 cases), Mean IQ scores was $72{\pm}21.2$. PTPS deficiency was 14 cases, DHPR deficiency was 2 cases, and GTPCH deficiency was 1 case. Conclusion: We confirmed there were varieties of DNA mutations. And MR imaging and EEG were nonspecific in PKU patients. Older children showed lower IQ score. Low phenylalanine diet prevents brain damage in PKU patient. Not only first few years of life but also lifetime, Keeping low phenylalanine diet is important.

• The Korean Journal of Nuclear Medicine Technology
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• v.26 no.2
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• pp.20-31
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• 2022

Purpose Broad Quantification Calibration(B.Q.C) is the procedure for Quantitative Analysis to measure Standard Uptake Value(SUV) in SPECT/CT scanner. B.Q.C was performed with Tc-99m, I-123, I-131, Lu-177 respectively and then we acquired the phantom images whether the SUVs were measured accurately. Because there is no standard for SUV test in SPECT, we used ACR Esser PET phantom alternatively. The purpose of this study was to lay the groundwork for Quantitative Analysis with various isotopes in SPECT/CT scanner. Materials and Methods Siemens SPECT/CT Symbia Intevo 16 and Intevo Bold were used for this study. The procedure of B.Q.C has two steps; first is point source Sensitivity Cal. and second is Volume Sensitivity Cal. to calculate Volume Sensitivity Factor(VSF) using cylinder phantom. To verify SUV, we acquired the images with ACR Esser PET phantom and then we measured SUV_mean on background and SUV_max on hot vials(25, 16, 12, 8 mm). SPSS was used to analyze the difference in the SUV between Intevo 16 and Intevo Bold by Mann-Whitney test. Results The results of Sensitivity(CPS/MBq) and VSF were in Detector 1, 2 of four isotopes (Intevo 16 D1 sensitivity/D2 sensitivity/VSF and Intevo Bold) 87.7/88.6/1.08, 91.9/91.2/1.07 on Tc-99m, 79.9/81.9/0.98, 89.4/89.4/0.98 on I-123, 124.8/128.9/0.69, 130.9, 126.8/0.71, on I-131, 8.7/8.9/1.02, 9.1/8.9/1.00 on Lu-177 respectively. The results of SUV test with ACR Esser PET phantom were (Intevo 16 BKG SUV_mean/25mm SUV_max/16mm/12mm/8mm and Intevo Bold) 1.03/2.95/2.41/1.96/1.84, 1.03/2.91/2.38/1.87/1.82 on Tc-99m, 0.97/2.91/2.33/1.68/1.45, 1.00/2.80/2.23/1.57/1.32 on I-123, 0.96/1.61/1.13/1.02/0.69, 0.94/1.54/1.08/0.98/ 0.66 on I-131, 1.00/6.34/4.67/2.96/2.28, 1.01/6.21/4.49/2.86/2.21 on Lu-177. And there was no statistically significant difference of SUV between Intevo 16 and Intevo Bold(p>0.05). Conclusion Only Qualitative Analysis was possible with gamma camera in the past. On the other hand, it's possible to acquire not only anatomic localization, 3D tomography but also Quantitative Analysis with SUV measurements in SPECT/CT scanner. We could lay the groundwork for Quantitative Analysis with various isotopes; Tc-99m, I-123, I-131, Lu-177 by carrying out B.Q.C and could verify the SUV measurement with ACR phantom. It needs periodic calibration to maintain for precision of Quantitative evaluation. As a result, we can provide Quantitative Analysis on follow up scan with the SPECT/CT exams and evaluate the therapeutic response in theranosis.

• Tuberculosis and Respiratory Diseases
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• v.65 no.5
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• pp.410-415
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• 2008

Bronchiolitis obliterans (BO) is a serious noninfectious complication following an allogeneic bone marrow transplant (BMT). A 21-year-old female received an allogeneic BMT as a treatment for myelodyplastic syndrome. Four months after the BMT, progressive dyspnea developed and BO was also diagnosed by a lung biopsy. The patient was administered steroid and immunosuppressive agents for 1 year but there was no improvement in pulmonary function. Azithromycin was prescribed (500 mg q.d. for 3 days followed by 250 mg three time a week) because macrolides might decrease the inflammatory reaction leading to BO. The patient's pulmonary function improved after administration of azithromycin for 1 year. The forced expiratory volume in a one second ($FEV_1$) increase was 220 mL (28.2%) and the forced vital capacity (FVC) increase was 460 mL (25.7%). We report the improvement in the pulmonary function after the administration of azithromycin for 1 year in a patient with BO after a BMT.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.5
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• pp.725-731
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• 2002

This experiment was performed to understand the changes in plasma leptin in association with plasma IGF-1, body weight and ADG from early growing to late finishing stages of Holstein steers. Blood collection was performed by arterial vein puncture at selected monthly ages of 1 (54 kg), 2.6 (103 kg), 7.2 (205 kg), 13.5 (314 kg), 16.9 (414 kg), 22.2 (550 kg), 24.9 (626 kg) and 27.4 months (695 kg). The blood was analyzed for leptin using the multi-species leptin RIA with recombinant bovine leptin (rbleptin) as standard, plasma IGF-1 was also measured using RIA. Against the standard rbleptin, the multi-species Leptin RIA system's sensitivity, cross reactivity, slope and recovery of 41.0 ng/ml rbleptin in plasma were 4.9 ng/ml, 11.22%, -1.396 and 97.8%, respectively. Plasma leptin measured were more than 5.0 ng/ml, which enable multi-species RIA system to investigate plasma leptin in normal growing steers. Body weight resulted to a highly significant second-degree polynomial relationship with plasma leptin (q=0.54, p<0.0001) and plasma IGF-1 (q=0.44, p<0.0001) from 1 to 27.4 monthly ages. However, the second-degree polynomial curve of plasma leptin and IGF-1 differs showing a concave and convex curvilinear relationship, respectively. ADG was not significantly associated to plasma leptin (r=0.06, p>0.05) and plasma IGF=1 (r=0.06, p>0.05) from 1 to 27.4 monthly ages. Low coefficient, but significant associated increase of plasma leptin and IGF-1 (r=0.12, p<0.008) from 1 to 27.4 months was observed. The uncoordinated increases of plasma IGF-1 at growing and plasma leptin at fattening period, may indicate (1) indirect involvement of endogenous IGF-1 on leptin secretion, and (2) IGF-1 level may signify lean and bone accretion while plasma leptin may mirror body fatness across the monthly ages of Holstein steers.