• Journal of Life Science
• /
• v.23 no.3
• /
• pp.347-354
• /
• 2013

Innate immunity is the ability to differentiate infectious agents from self. The innate immune system is comprised of a complicated network of recognition and effector molecules that act together to protect the host in the early stage of an infectious challenge. Mannose-binding lectin (MBL or mannose-binding protein, MBP) belongs to the family of $Ca^{2+}$-dependent lectins (C-type lectin with a collagen-like domain), which are considered an important component of innate immunity. While it is associated with increased risk and severity of infections and autoimmunity, the most frequent immuno-deficiency syndrome was reported to be low MBL level in blood. Deficiency of human MBL is caused by mutations in the coding region of the MBL gene. Rat homologue gene of human MBL gene was used to study functions of wild type and mutant MBL proteins. Although extensive studies have yielded the structural information of MBL, the functions of MBL, especially mutant MBL, still require investigation. We previously reported the cloning of rat wild-type MBL gene and the production of a truncated form of MBL protein and its antibody. Here, we present the cloning of mutant MBL cDNA in collagen-like domain (R40C, G42D, and G45E) using site-directed mutagenesis and differential behaviors of wild type and mutant MBL in cells. The major difference between wild type and mutant MBL was that while wild type MBL was secreted, mutant MBL was inhibited for secretion, retained in endoplasmic reticulum, and still functioned as a lectin.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.4
• /
• pp.2221-2224
• /
• 2013

The glutathione S-transferases (GSTs) are a family of enzymes involved in the detoxification of a wide range of chemicals, including important environmental carcinogens, as well as chemotherapeutic agents. In the present study 294 acute leukemia cases, comprising 152 of acute lymphocytic leukemia (ALL) and 142 of acute myeloid leukemia, and 251 control samples were analyzed for GSTM1 and GSTT1 polymorphisms through multiplex PCR methods. Significantly increased frequencies of GSTM1 null genotype (M0), GSTT1 null genotype (T0) and GST double null genotype (T0M0) were observed in the both ALL and AML cases as compared to controls. When data were analyzed with respect to clinical variables, increased mean levels of WBC, Blast %, LDH and significant reduction in DFS were observed in both ALL and AML cases with T0 genotype. In conclusion, absence of both GST M & GST T might confer increased risk of developing ALL or AML. The absence of GST enzyme might lead to oxidative stress and subsequent DNA damage resulting in genomic instability, a hallmark of acute leukemia. The GST enzyme deficiency might also exert impact on clinical prognosis leading to poorer DFS. Hence GST genotyping can be made mandatory in management of acute leukemia so that more aggressive therapy such as allogenic stem cell transplantation may be planned in the case of patients with a null genotype.

• Journal of Genetic Medicine
• /
• v.2 no.1
• /
• pp.17-22
• /
• 1998

The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management of the patients with the Lesch-Nyhan syndrome is frustrating and requires burdensome medical treatment since it cripples the patient and shortens the life span by progression of neurological symptoms, but there are no cures or measures for relieving relentless natural course of the disease yet. Therefore, prenatal diagnosis of the affected fetus is important in genetic counselling for the family at high risk. In this study, four different mutations in the HPRT gene of four probands have been identified in four unrelated families; K215X, Q109X, nt.631 ${\Delta}A$, and nt.289 ${\Delta}GT$. Two mutations among them altered restriction enzyme sites; SpeI for Q109X and MaeI for nt.289 ${\Delta}GT$. Based on their molecular defects, prenatal diagnoses of 3 the fetuses were successfully made between ninth and eleventh week of gestation by polymerase chain reaction (PCR), restriction digestion and DNA sequencing using cDNA obtained from chorionic villus samples (CVS). We predicted the outcome of all fetuses prenatally. Among the three fetuses two were male and one was female according to the identification made by PCR amplification of the sex determining region of the Y chromosome(SRY) gene. Each carried a wild type allele for the corresponding mutant allele. They were also tested postnatally for the mutations to be unaffected.

• Journal of Arbitration Studies
• /
• v.11 no.1
• /
• pp.75-93
• /
• 2001

The advantages of arbitration such as promptness, economy and flexibility apply to the disputes arising from corporate governance between shareholders and a corporation. The confidentiality of arbitration can be particularly highlighted in the disputes among the members inside corporation. But it appears that the shareholders believe litigation the best way to pursue liabilities of managers of corporation and improve the system of corporate governance. And it is claimed that the current litigation system lacks the implementation of shareholders rights due to structural deficiency and therefore need bring class actions into the system of Korean jurisprudence. The OECD, which afforded the rescue finances to Korea, also recommended shareholder class actions as a way to improve corporate governance. Class actions have merits but even advanced countries consider the changes of existing system or only stay class actions in the stage of discussion. Rather, legal experts urge arbitration to be used more frequently and the Courts also approved the dispute resolutions of the disputes as to corporate governance through arbitration. There is no report in Korea that arbitration was used to resolve the disputes between shareholders and the managers, or between shareholders and corporation, which is listed in the Stock Market. There only are the debates for bring class actions into the judicial system between NGOs and the organizations of corporate managers. But arbitration has greater advantages in resolving the disputes among the members of corporation that any other methods for dispute resolution. Arbitration can interpret flexibly the mandatory provisions of the Statutes of Security and the Code of Commerce to meet the needs of parties involved, which is not possible to the Courts. Arbitration can issue the award to meet the equity of the parties. And arbitration can avoid a resolution of All or Nothing by fully considering the specific situations of Korean corporations(such as family-dominated management) and can issue the award beneficial to all parties of shareholders, managers and corporation. Thus it should be sought to resolve the disputes as to corporate governance through arbitration.

• Molecules and Cells
• /
• v.37 no.7
• /
• pp.526-531
• /
• 2014

Human PARP family consists of 17 members of which PARP-1 is a prominent member and plays a key role in DNA repair pathways. It has an N-terminal DNA-binding domain (DBD) encompassing the nuclear localisation signal (NLS), central automodification domain and C-terminal catalytic domain. PARP-1 accounts for majority of poly-(ADP-ribose) polymer synthesis that upon binding to numerous proteins including PARP itself modulates their activity. Reduced PARP-1 activity in ageing human samples and its deficiency leading to telomere shortening has been reported. Hence for cell survival, maintenance of genomic integrity and longevity presence of intact PARP-1 in the nucleus is paramount. Although localisation of full-length and truncated PARP-1 in PARP-1 proficient cells is well documented, subcellular distribution of PARP-1 fragments in the absence of endogenous PARP-1 is not known. Here we report the differential localisation of PARP-1 Nterminal fragment encompassing NLS in PARP-$1^{+/+}$ and PARP-$1^{-/-}$ mouse embryo fibroblasts by live imaging of cells transiently expressing EGFP tagged fragment. In PARP-$1^{+/+}$ cells the fragment localises to the nuclei presenting a granular pattern. Furthermore, it is densely packaged in the midsections of the nucleus. In contrast, the fragment localises exclusively to the cytoplasm in PARP-$1^{-/-}$ cells. Flourescence intensity analysis further confirmed this observation indicating that the N-terminal fragment requires endogenous PARP-1 for its nuclear transport. Our study illustrates the trafficking role of PARP-1 independently of its enzymatic activity and highlights the possibility that full-length PARP-1 may play a key role in the nuclear transport of its siblings and other molecules.

• Journal of Life Science
• /
• v.20 no.9
• /
• pp.1420-1425
• /
• 2010

Innate immunity is the first line of host defense consisting of various molecules against infectious challenges. Mannose-binding lectin (MBL) belongs to the collectin protein family which takes part of innate immunity and is able to recognize specific carbohydrates on the surface of a variety of infectious agents acting as a pattern recognition molecule. In this way, MBL differentiates self from non-self and interacts with other molecules of the immune system. MBL genotype shows various MBL2 polymorphisms which are responsible for MBL deficiency in a substantial portion of the entire human population and for susceptibility to infectious disease. Therefore, it has been highlighted in the relationship between genetic variants and clinical significance. Here we focus on presenting anoverview of our understanding of MBL structure and functions.

• Journal of Genetic Medicine
• /
• v.6 no.2
• /
• pp.161-165
• /
• 2009

Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-${\alpha}$-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal muscle. The classic infantile form of Pompe disease is characterized by marked cardiomegaly, respiratory failure and severe generalized hypotonia. Most patients die from cardiorespiratory failure or respiratory infection within the first year or two of life without treatment. A "non-classic" phenotype presents with less severe clinical feature and slow progression of disease. We report two patients with non-classic infantile Pompe disease from one family manifested hypertrophic cardiomyopathy and progressive proximal weakness.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.1
• /
• pp.299-303
• /
• 2016

Background: This study was conducted to determine knowledge, attitudes and practices about cervical cancer and HPV vaccination of students studying in various faculties of Erciyes University. Materials and Methods: The study was performed among the first and fourth grade students of Medicine, Theology, Education and Economics and Administrative Sciences (FEAS) faculties of Erciyes University. It was aimed to reach 1,073 students and 718 were evaluated. A questionnaire consisting of 48 questions related to the socio-demographic characteristics, knowledge, attitude and practices about cervical cancer and HPV vaccination was administered to the students. The chi-square test and logistic regression were used for the statistical analyses. Results: Of the students, 78.3% were aware of cervical cancer, while 36.1% of them were aware of the HPV vaccine. The percentage hearing about cervical cancer and HPV vaccination was significantly higher among the students of the medical faculty than the others and among fourth grade students comparing with the first grade. The marital status and the presence of a health worker in the family had no significant impact on the knowledge level of the students. The acceptability of the HPV vaccination was low among all students. Conclusions: The knowledge levels of the university students about cervical cancer and HPV vaccination are inadequate. This deficiency is more pronounced among the non-medical students and there is no significant increase during the faculty years. Non-medical students must be provided with information about important public health issues by elective courses. HPV vaccination could provide many benefits for men and women by decreasing the morbidity and mortality of cervical, anal, and penile cancers.

• Journal of Nutrition and Health
• /
• v.25 no.7
• /
• pp.668-683
• /
• 1992

To evaluate the current practices of the tube feeding and the status of tube feeding patient 76 adult in-patients at 6 hospitals located in Seoul and Chung-buk province were examined through reviewing patient charts observing patients and interviewing patients nurses dietitians patients' family or care-givers. The results were as follows : 1) An average age of the patients was 54.5 years with 41% over 60 years old. Patients with decreased mental status dysphagia esophageal obstruction and respiratory problem were fed by tubes. 2) The range of duration of tube feeding is between 4 days and 6 years. Most patients were received formula through nasogastric tube(89.5%) while 7.9% of gastrostomy and 2.6% of jejunostomy. Administration method for formula were bolus feeding regardless of the route of formula delivery. 3) Mean total calories received for men were 1590 kcal and 1450 kcal for female. Mean volume per meal was 282m, l and mean frequency of feeding was 5.68 while mean feeding interval 3$\frac{1}{4}$ hours and mean rate of infusion 68.4ml/min. All patients received hospital-blenderi-zed formula as the major source of nutrition. Home-blenderized formula and commercial formula as a supplement were used 35%, 13.2% respectively. 4) Thirty-eight percent of patients was hypoalbuminemia and 61% was at the moderate level of deficiency in hemoglobin. 5) Complications associated with tube feeding were diarrhea (22.4%) constipation(21.1%) vomiting(11.8%) and so on. 6) Serum albumin levels of patients who have complications associated with tube feeding were significantly lower than those of patients without complications In planning a tube feeding regimen the type of a formula must be integrated with both a delivery system and a protocol for administering the tube feeding. the multidisciplinary effort required to deliver enteral therapy is essential to improve current practices used at hospitals.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.11 no.1
• /
• pp.88-98
• /
• 2011

Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.