• Proceedings of the Korean Environmental Health Society Conference
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• 2005.12a
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• pp.87-94
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• 2005

Results from previous studies revealed that metal level in the body is related to certain types of diseases. For example. serum copper level with chronic heart failure, iron and transferrin in the blood serum with acute cerebral vascular diseases, Zn in the CNS, lead with neurotoxicity, hypertension, genetic damage, arsenic with cancer skin lesion, Al with neurobehavioral function (cognitive impairment and memory disorder), and etc. The rate of stroke has increased in recent years and several metals were found to be responsible for causing stroke. This study compared several blood metal concentrations between stroke and non-stroke patients. Patients with stroke (116 samples) and non-stroke (111 samples including lowback pain and others) participated in this study. Total of 227 blood samples were collected and participants completed questionnaires regarding age, gender, occupation, residence, alcohol, smoking, and etc. To be qualified into the stroke group, patients have never experienced stroke previously. Subjects only included ischemic stroke and intracerebral hemorrhage patients diagnosed by brain CT and brain MRI. Patients with high risk of metal exposure such as herbal intake and job related exposure were excluded. 10ml of blood samples were analyzed by ICP-MS method at the Center of Nature and Science at Sangji University. Metal geometric mean (SD) concentrations in blood of study subjects showed higher values, 2.64-36.12%, than WHO reference values in Mn, Ni, Hg, Se, and As. Metal concentration in blood of stroke patients non-adjusted for potential confounders was higher except for Hg and also higher except for Ni in adjusted for potential confounders. Co was significantly higher in stroke patients (p=0.002) than non-stroke patients adjusted for potential confounders. Regression coefficient values of stroke patients was 0.17-8.25 in each metals. Odd ratio of stroke patients had 0.96 (Ni)-2.68 (Co) compared to non-stroke cases. This result means that Co increase of 1 raises the risk ratio of stroke by 2.86 times. Based on the results, metal concentration in blood seems to affect incidence of stroke.

• Molecules and Cells
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• v.25 no.1
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• pp.55-63
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• 2008

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the selective death of motor neurons. Mutations in the SOD1 gene are responsible for a familial form of ALS (FALS). Although many studies suggest that mutant SOD1 proteins are cytotoxic, the mechanism is not fully understood. To investigate the role of mutant SOD1 in FALS, human SOD1 genes were fused with a PEP-1 peptide in a bacterial expression vector to produce in-frame PEP-1-SOD fusion proteins (wild type and mutants). The expressed and purified PEP-1-SOD fusion proteins were efficiently transduced into neuronal cells. Neurones harboring the A4V, G93A, G85R, and D90A mutants of PEP-1-SOD were more vulnerable to oxidative stress induced by paraquat than those harboring wild-type proteins. Moreover, neurones harboring the mutant SOD proteins had lower heat shock protein (Hsp) expression levels than those harboring wild-type SOD. The effects of the transduced SOD1 fusion proteins may provide an explanation for the association of SOD1 with FALS, and Hsps could be candidate agents for the treatment of ALS.

• Korean Journal of Pharmacognosy
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• v.48 no.3
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• pp.179-186
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• 2017

Pyrrosia lingua which belongs to Polypodiaceae has been used as a traditional medicine for the treatment of urinary system inflammation, urination disorder, and bronchitis. However, there are not enough phytochemical and pharmacological studies of P. lingua up to now. Here in this study, the protective effect of MeOH extract of whole plant of Pyrrosia lingua (MPL) against 2% glucose-induced toxicity was investigated using Caenorhabditis elegans (C. elegans) model system. We found that MPL significantly extended the lifespan of wild-type nematode under normal culture condition. MPL also effectively recovered the decreased lifespan caused by 2% glucose-toxicity. In addition, MPL efficiently attenuated the increased glucose concentration inside of nematode. Further studies evaluating diabetes-related factors revealed that MPL reduced both intracellular ROS and lipid accumulation which were up-regulated under 2% glucose supplement condition. Our data also showed that MPL improved the 2% glucose-induced shortened body movement of nematode. Lastly, we carried out genetic studies using several single gene knockout mutants to establish the possible target of MPL. Our results demonstrated that genes such as daf-2 and daf-16 were responsible for the protective activity of MPL against 2% glucose-induced toxicity. These results indicate that MPL exerts protective action against 2% glucose via regulation of insulin/IGF-1 sinaling pathway and FOXO activation.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.256-260
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• 2009

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease affecting mostly children. This disorder is characterized by recurrent episodes of hemoptysis, bilateral diffuse pulmonary infiltrates, and iron-deficiency anemia. An acute fulminant alveolar hemorrhage can be fatal due to respiratory failure, while chronic hemorrhage leads to hemosiderin-laden macrophages and pulmonary fibrosis. Genetic, autoimmune, allergic, environmental, and metabolic mechanisms of pathogenesis have been suggested, but the etiology of IPH remains unknown. We report on a 9-year-old girl with idiopathic pulmonary hemosiderosis who showed seasonal recurrences without cause.

• Journal of Oral Medicine and Pain
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• v.37 no.1
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• pp.9-17
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• 2012

Lichen planus is a chronic inflammatory mucocutaneous disease that affects multiple sites of the body. Often it involves the oral mucosa, but also involve other sites such as skin, genitals, scalp and nails. There is no clear cause of oral lichen planus (OLP), current data suggest that OLP is a T-cell mediated autoimmune disorder which may have an altered self-peptide triggering apoptosis of oral epithelial cells. Usually OLP appears in middle-aged women which tends to be chronic with periods of exacerbation and remission. There are many theories those causes the OLP such as psychological and environmental factors, genetic tendency, drugs and more. 60-70% of lichen planus is accompanied by oral lesions, and more than half of its cases are not able to defined by their skin. In this study, among all the possibility(possible) theories, we tried to evaluate the influence of emotional stress in exacerbating OLP. There were thirty patients with a clinical or histological diagnosis of OLP and other thirty subjects who did not show any signs of systemic disorders include OLP. They were evaluated by using modified Holmes and Rahe's Social Readjustment Rating Scale (SRRS). As a result, a significantly higher level of stress was found in the OLP patients than the control group. Therefore it could be concluded that psychological stressors play an important role in the exacerbating OLP.

• IMMUNE NETWORK
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• v.3 no.3
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• pp.242-247
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• 2003

Background: Psoriasis is an inflammatory skin disorder that is characterized by a marked proliferation of keratinocytes, vascular dilation and leukocyte infiltration. Cytokines play important roles in the pathogenesis of inflammatory disorders. An overexpression of proinflammatory cytokines was characterized in psoriasis plaque. Among these cytokines, IL-$1{\beta}$ is major pro-inflammatory cytokine synthesized during the infection and inflammatory process. The IL-1 receptor antagonist (IL-1Ra) competes for the same IL-1 receptor for $IL-1{\alpha}$ and $-1{\beta}$, which prevents activation of the target cells. Three single nucleotide polymorphisms (SNPs) in the IL-$1{\beta}$ gene have been reported at position -31, -511 and +3954. Within the IL-1Ra gene (IL-1RN), there is a variable number of tandem repeats (VNTR) of an 86 bp length in intron 2. These polymorphisms related to cytokine production and associated with various diseases. Methods: We investigated the polymorphisms of IL-1B (promoter -511 and +3954) and IL-1RN on 114 psoriasis patients and 311 healthy normal controls in Korean. We performed PCR-RFLP on single nucleotide polymorphisms (SNPs) of IL-1B (promoter -511 and +3954) and fragment analysis on IL-1RN 86 bp VNTR polymorphism. Results: The frequency of IL-1B $-511^*1$ allele (patients vs. controls; 50.0% vs. 42.3%, RR=1.4) was significantly increased and IL-1B $-511^*2$ allele (patients vs. controls; 50.0% vs. 57.7%, RR=0.7) decreased in psoriasis patients compared to normal controls. We also analyzed the IL-1B -511 polymorphism according to patients' characters (age of onset, sex and family history). The IL-1B -511 alleles were significantly associated in patients with male and family history than health normal controls. There were no significant associations of IL-1B +3954 and IL-1RN polymorphisms with psoriasis patients. Conclusion: These results suggest that the polymorphism of IL-1B -511 could be genetic susceptibility to psoriasis in Koreans.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.131-135
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• 2008

Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The case presented here was that of an 11-day-old female infant who had elevated galatose levels upon initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly. The patient was transferred due to aggravation of clinical symptoms including bleeding and jaundice. She had a delayed galactose free diet because of an inappropriate diagnosis. We quickly provided her with a lactose/galactose-restricted diet as per her final diagnosis. Clinical and laboratory results were improved after a few days of treatment. For confirmatory testing for classical galactosaemia, we simultaneously analyzed for GALT enzyme activity and allele-specific PCR/fragments for seven mutations and two polymorphisms in the GALT gene. We were able to find several GALT-deficient and compound heterozygous mutations of the GALT gene.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.21-25
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• 2008

Purpose : In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began screening for inherited metabolic disorders using MS/MS in April, 2001. Our goal was to determine the overall prevalence of metabolic disorders and to assess the effectiveness of newborn screening by MS/MS in Korea. Methods : From April, 2001 to December, 2007, we screened newborns and high risk groups using MS/MS. Acylcarnitines and amino acids were extracted and butylated and were introduced into the inlet of MS/MS. Confirmatory testing including a repeat newborn screening, and urine organic acid and plasma amino acid analysis were performed on a case-by-case basis. Results : The total number of screened subjects 284,933 which comprised 251,799 neonates and 33,134 high risk subjects. The recall rate was 0.4% (1158 tests) and true positive cases were 117 (0.04%). Confirmed metabolic disorders (newborn/high risk group) were as follows; 78 (25/53) amino acid disorders, 27 (16/11) organic acid disorders, and 12 (5/7) fatty acid oxidation disorders. The estimated prevalence of inherited metabolic diseases in newborns was 1:5,000 and that in the total group was 1:2,000. Conclusion : Newborn screening by MS/MS improved the detection of many inherited metabolic disorders. We therefore propose that all newborns be screened by a MS/MS national program and followed-up using a systemic organization strategy.

• Clinical and Experimental Reproductive Medicine
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• v.36 no.1
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• pp.71-80
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• 2009

Objective: PCOS is one of the most common endocrine disorder affecting reproductive age women. It shows wide range of reproductive and metabolic manifestations. This study was to determine the differences of clinical and laboratory characteristics between adolescent and adult Korean Daegu Kyungpook PCOS patients. We also compared clinical and laboratory values of Korean PCOS patients to Turkish and American PCOS patients. Methods: 88 cases were diagnosed and enrolled as PCOS patients, based on 2003 Rotterdam criteria, who visited KNUH Reproductive Endocrinology division between Jan. 2000 and Apr. 2008. We retrospectively reviewed clinical characteristics, serum hormone levels, ultrasono-graphic findings. And we divided into 2 groups, adolescent and adult. We analyzed them with Chi-square test and Student's t-test statistically. Results: There were no statistically significant differences between adult and adolescent Korean PCOS patients. The prevalence of hyperandrogenism such as facial acne or hirsutism, obesity, and insulin resistance of Korean PCOS women was significantly lower than Turkish and American PCOS women. Conclusion: From the results of this study, we can suggest that it is sure that there are differences of clinical and laboratory characteristics of PCOS patients between races. Genetic background, dietary habits and life style affect the expression of clinical symptoms of PCOS. But we could not find out the difference between adolescent and adult PCOS patients of same race. It might be due to the limitation of small patient number and narrow range of age distribution. So, there must be large scale and multi-center and multi-regional study.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.17
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• pp.7653-7658
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• 2015

Background: NAD(P)H:quinone oxidoreductase 1 (NQO1) is part of the antioxidant defence system involved in detoxification. This study aimed to analyze the influence of NQO1 (C609T) genetic polymorphism in non small cell lung cancer (NSCLC)as a putative risk factor. Materials and Methods: Present study included 100 cases of NSCLC (adenocarcinoma) patients and 100 age and sex matched healthy controls. NQO1 (C609T) genotyping was performed by allele specific PCR for assessment of putative associations with clinical outcome and genotypes of. The association of the polymorphism with the survival of NSCLC patients' was analyzed by Kaplan-Meier method. Results: In Indian NSCLC (adenocarcinoma) patients increased risk of developing NSCLC was found to be associated with NQO1 609TT genotype [OR 3.68(0.90-14.98), RR 2.04(0.78-5.31)] for CT [OR 2.91(1.58-5.34), RR 1.74(1.23-2.44) p=0.0005 for CT], for CT+TT [ OR 3.26(1.82-5.82), RR 1.87(1.34-2.61) p<0.0001 for CT+TT]. A significant difference (p=0.0009) was observed in genotype distribution among cases and healthy controls. Patients with CT+TT genotype exhibited a significant poor overall survival compared with patients displaying homozygous CC genotype (p=0.03) and when survival independently compared with CC, TT and CT genotype was also found to be significantly associated (p=0.02). Overall median survival times were CT 6.0 months, TT 8.2 months, and CT + TT (6.4 months)]. Conclusions: The present study revealed that NQO1 CT, TT and CT+TT genotypes may be associated with clinical outcome and risk of developing NSCLC in the Indian population.