The gene for tyrosinase has been mapped to the long arm of chromosome 11 at 11q14-21. The gene is at least 50Kb in length and its coding region is divided into five exons. Until now several mutations of the tyrosinase gene have been identifed in patient with typical oculocutaneous albinism (OCA) who are responsible for tyrosinase negative OCA. It may be possible to determine the types of OCA by measuring the hairbulb tyrosinase activity. Hairbulb tyrosinase activity was examined in a Korean albino to determine the type of OCA. And also tyrosinase assay was carried out in normally pigmented individuals and all members of a Korean albino's family to examine the tyrosinase activities. Five exons of tyrosinase gene from a Korean albino were amplified by polymerase chain reaction. Each amplified exon segments were independently subcloned and DNA sequences of clones were determined. The results obtained were as follows : 1. A Korean albino had no measurable hairbulb tyrosinase activity and was identified as type IA (tyrosinase negative) oculocutaneous albinism. 2. Normally pigmented individuals had different ranges of hairbulb tyrosinase activity. 3. A Korean albino had two single base insertions within exon V (between 337bp and 338bp, 353bp and 354bp) of tyrosinase gene. These insertional mutations might disrupt tyrosinase function and were associated with a total lack of melanin biosynthesis.
Albinism* ; Albinism, Oculocutaneous ; Arm ; Base Sequence ; Chromosomes, Human, Pair 11 ; Clinical Coding ; Clone Cells ; Exons ; Humans ; Melanins ; Monophenol Monooxygenase* ; Polymerase Chain Reaction

OBJECTIVES: Vitamin D deficiency, which causes secondary hyperparathyroidism, is considered to be a major contributor to osteoporosis. Because the serum 25-hydroxyvitamin D (25-OHD) level depend on sun exposure and, varies by season, the level of serum 25-OHD in each season at which vitamin D status can lead to changes in bone mineral density (BMD) is not known. METHODS: A total of 2,878 women who underwent periodic health examinations at Ajou University Hospital were included in this study. We measured the serum 25-OHD concentrations using radioimmunoassay and BMDs using dual energy x-ray absorptiometry (DXA). The differences in serum 25-OHD levels among groups as a function of age, season, and BMD were tested by one-way ANOVA. RESULTS: The serum 25-OHD level was not different based on age, but by season, with higher levels in the summer and autumn than in the winter and spring. However, the 25-OHD level did not have a significant relationship with BMD in any season. CONCLUSION: The serum 25-OHD level represents vitamin D status at the time of testing, which is not associated with long-term changes in BMD. When the 25-OHD levels are used to make clinical decisions related to the treatment of osteoporosis, careful interpretation is required.
Absorptiometry, Photon ; Bone Density ; Female ; Humans ; Hyperparathyroidism, Secondary ; Osteoporosis ; Radioimmunoassay ; Seasons ; Solar System ; Vitamin D ; Vitamin D Deficiency ; Vitamins

Meningitis associated with tsutsugamushi is not a rare disease and simple, effective treatments are available. However, the diagnosis of meningitis is important since it is potentially associated with significant mortality rates. Case 1 : A 47-year-old woman had a headache and high fever with chills for 3 days. She fell into a stupor, and her blood pressure dropped to 80/60 mmHg on the fifth day of admission to the hospital. The patient was treated with 200 mg of doxycycline given intravenously. Case 2 : A 48-year-old woman was admitted with a 7-day history of fever with chills, severe headache, vomiting, and a generalized non-pruritic erythematous maculopapular rash. The patient was treated with 200 mg of doxycycline given orally. CSF examinations revealed predominantly lymphocytic pleocytosis in all cases. The indirect immunofluorescent antibody titer for Orientia tsutsugamushi were 1:20,480 in case 1 and 1:5, 120 in case 2. We report two cases of meningitis associated with tsutsugamuschi disease.
Blood Pressure ; Chills ; Diagnosis ; Doxycycline ; Exanthema ; Female ; Fever ; Headache ; Humans ; Leukocytosis ; Meningitis* ; Middle Aged ; Mortality ; Orientia tsutsugamushi ; Rare Diseases ; Stupor ; Vomiting

BACKGROUND: Smoking and high-risk occupation have been known to be the risk factors of lung cancer. The carcinogen-metabolizing enzymes in human body such as glutathione S-transferase M1, T1 and N-acetyltransferase 1 have also been regarded as risk factors in many cancers, because the activities of those enzymes play a role in metabolizing the carcinogen. A case-control study was conducted to evaluate the genetic polymorphism of GSTM1, T1 and NAT1 in lung carcinogenesis in Korean men. METHODS: The histologically proven lung cancer cases were recruited from Seoul National University Hospital. The patients of more than 40-year-old with the nonmalignant urinary tract diseases were recruited as controls from the same hospitals. The informations of demographical characteristics and smoking were obtained by interview or chart review and the genetic polymorphisms of GSTM1, T1 and NAT1 were determined by PCR-based assay. The statistical analyses were performed by linear logistic regression. RESULTS: The number of case-control was 118 and 150, respectively. The smoking history was significantly higher in the lung cancer patients than the controls. The prevalence of GSTM1 null-type was statistically higher(OR=2.25 ; 95% C I=1.12-4.51) in squamous cell carcinoma than other genotypes, but other histologic types were not. The prevalence of GSTT1 null-type were not statistically higher than other genotypes in all histologic types. The fast acetylator of NAT1 was more prevalent than normal(OR-2.13 ; 95% C I=1.04-4.40) in all lung cancer patients. CONCLUSION: The null-type of GSTM1 and fast acetylator of NAT1 are associated with development of lung cancer in Korean men.
Adult ; Carcinogenesis ; Carcinoma, Squamous Cell ; Case-Control Studies ; Genotype ; Glutathione Transferase* ; Glutathione* ; Human Body ; Humans ; Logistic Models ; Lung Neoplasms* ; Lung* ; Male ; Occupations ; Polymorphism, Genetic* ; Prevalence ; Risk Factors ; Seoul ; Smoke ; Smoking ; Urologic Diseases

We encountered one case of Chinese Herb Nephropathy in Korea. But clinical feature of our case was different from those of CHN in Belgium. The purpose of this case report was clarified the features of CHN in Asia. The subjects consisted of a patient diagnosed as interstitial nephritis in Hanyang University Hospital and of those reported in the literature in Asia and Belgium. We investigated the clinical and histological features of CHN patients in Asia and compared them with the Belgian cases. The remarkable differences were as follows; (1) relatively high prevalence in males compared with Belgian cases, (2) digestion with multiple object and mode in Asia, (3) Most of renal failure in Asia were improved or were in stable status. (4) Fanconi's syndrome was found in most cases of Asia. In conclusion, CHN in Asia has some characteristics distinguished from Belgian Chinese Hreb Nephropathy. These findings could indicate that susceptibility to aristolochic acid may be different among races. Furthermore, it is likely that different components of AA could cause different features, that the amount of ingested AA, mode in digestion, or interaction with other components except nephrotoxic agent such as AA might reflect clinical pictures. Other hypothesis may be some other toxic substances affecting the clinical findings although they are not identified at present. Further studies must be undertaken to clarify these differences.
Asia ; Asian Continental Ancestry Group* ; Belgium ; Continental Population Groups ; Digestion ; Humans ; Korea ; Male ; Nephritis, Interstitial ; Prevalence ; Renal Insufficiency

OBJECTIVES: Hyperhomocysteinemia is related to fractures in the elderlies. We assessed the relationship between serum homocysteine and bone mass, size, and bone turnover rate. METHODS: This study included 2,670 postmenopausal women who underwent periodic health examinations in Ajou University Health Promotion Center, between January 2002 and December 2003. Serum homocysteine, bone turnover markers and bone mineral density were measured RESULTS: Patient age, osteocalcin, 25-vit D, total lumbar BMD, total lumbar T-score, the lowest lumbar BMD, the lowest lumbar T-score, femur neck BMD, femur neck T-score, femur trochanteric BMD and femur trochanteric T-score showed a significant correlation with the serum total homocysteine. However, after adjusting for age, the only osteocalcin was significantly correlated with the serum total homocysteine, At the 3rd lumbar vertebra, the BMC, volumetric BMD and areal BMD had a significant correlation with the serum total homocysteine but the bony size and the volume were not significant. After adjusting for age, the 3rd lumbar BMD was significantly correlated with the serum total homocysteine. CONCLUSION: Serum homocysteine level is correlated significantly with bone turnover rate, less with bone mass but not with bone size.
Bone Density ; Bone Marrow ; Female ; Femur ; Femur Neck ; Health Promotion ; Homocysteine ; Humans ; Hyperhomocysteinemia ; Osteocalcin ; Spine

In order to elucidate the mechanism of oxidative damage of cadimu(Cd) on culturedmouse preimplantation embyors.The embryotoxocity of Cd was examined after cultured mouse preimplantation embryoswere exposed to various concentrations of CdCl2. In addition, the protected effect of antioxidant,catalase against Cd-induced embryotoxicity was investigated.CdCl2 decreased the development of cultured mouse preimplantation embryos in dose andtime-dependent manners, and also oxidative damage was involoved in Cd-induced embryotoxicityin mouse preimplantation embryos by the prevention of catalase on Cd-induced toxicity.
Animals ; Blastocyst ; Cadmium Chloride ; Cadmium* ; Catalase ; Embryonic Structures* ; Mice

In order to elucidate the mechanism of oxidative damage of cadimu(Cd) on culturedmouse preimplantation embyors.The embryotoxocity of Cd was examined after cultured mouse preimplantation embryoswere exposed to various concentrations of CdCl2. In addition, the protected effect of antioxidant,catalase against Cd-induced embryotoxicity was investigated.CdCl2 decreased the development of cultured mouse preimplantation embryos in dose andtime-dependent manners, and also oxidative damage was involoved in Cd-induced embryotoxicityin mouse preimplantation embryos by the prevention of catalase on Cd-induced toxicity.
Animals ; Blastocyst ; Cadmium Chloride ; Cadmium* ; Catalase ; Embryonic Structures* ; Mice

Aspergillus funigatus and other pathogenic fungi synthesize a toxic epidithi-odiopiperzine (ETP) metabolite, namely gliotoxin. Gliotoxin commonly react with sulfhydryl groups, and then, forms hydrogen peroxide. These fungal toxins induce apoptotic cell death in various cells. Apoptosis induced by gliotoxin need calcium. Effect of calcium preconditioning was not reported in gliotoxin-induced apoptosis. To examine the effect of protein kinase C (PKC) and calcium which was regulate caspase-3, PKC and calcium preconditioning before gliotoxin treatment, apoptotic agents such as bcl-2 family, caspase-3 and DNA fragmentation in A7r5 cell line from rat smooth muscle cell were studied. These results showed that gliotoxin induces the expression of bad of bcl-2 family, caspase-3 activation and DNA fragmentation in A7r5 cells. Gliotoxin treatment followed by calcium and PKC preconditioning suppress the Bad of bcl-2 family, and inhibited caspase-3 activation, respectively. These results suggest that PKC and calcium preconditioning protect the gliotoxin-induced apoptosis, through the protection of pro-apoptotic bcl-2 family in A7r5 cells.
Animals ; Apoptosis ; Aspergillus ; Calcium ; Caspase 3 ; Cell Death ; Cell Line ; DNA Fragmentation ; Fungi ; Gliotoxin ; Humans ; Hydrogen Peroxide ; Muscle, Smooth* ; Mycotoxins ; Myocytes, Smooth Muscle* ; Protein Kinase C ; Rats*

Nitric oxide (NO) elevates intracellular calcium. But the actions of calcium in NO-induced cell death are not well understood. This study was carried out to investigate the signal transduction pathways of calcium and NO-induced cytotoxicity in H9c2 cardiac myoblasts by using NO donor compounds such as sodium nitroprusside (SNP) and S-nitroso-N-acetylpenicillamine (SNAP). Pretreatment of intracellular calcium chelating agent (BAPTA/AM) or L-type calcium channel blockers (nicardipine, nifedipine, diltiazem and veraparmil) or T-type calcium channel blocker (flunarizine) blocked SNP-induced cytotoxicity respectively only in a three hours. However, thapsigargin (TG), which inhibits endoplasmic reticulum dependent Ca(2+)-ATPase and thereby increases cytosolic Ca(2+), augmented SNP-induced cytotoxicity. The protective effect of BAPTA/AM was inhibited by treatment of protein synthesis inhibitor, cyclohexamide. In addition, pyrrolidine dithiocarbamate (PDTC), NF-kB inhibitor, attenuates the protective effect of BAPTA/AM against SNP-induced cytotoxicity. It is indicated that the protective effect of BAPTA/AM against NO-induced cytotoxicity might be due to the expression of protein related to activation of NFkB. From these results, it is concluded that SNP-induced cytotoxicity is mediated by calcium in a 3 hours via down regulation of protein expression rleated to activation of NFkB.
Calcium Channels, L-Type ; Calcium Channels, T-Type ; Calcium* ; Cell Death ; Cytosol ; Diltiazem ; Down-Regulation ; Endoplasmic Reticulum ; Humans ; Myoblasts, Cardiac* ; NF-kappa B ; Nifedipine ; Nitric Oxide ; Nitroprusside ; S-Nitroso-N-Acetylpenicillamine ; Signal Transduction* ; Thapsigargin ; Tissue Donors