• Journal of Genetic Medicine
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• v.21 no.1
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• pp.36-40
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• 2024

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is a maternally inherited mitochondrial disorder that usually affects the cerebral cortex and prevents high-energy demands from being met. Herein, we present the case of a male patient who rapidly developed multiple seizures, headaches, and altered mentality accompanied by severe metabolic acidosis and lactic acidosis. Initially, a brain imaging study confirmed stroke-like lesions (SLLs) only in the cerebellum. During follow-up, newly developed SLLs with lactic acidosis were observed in the basal ganglia (BG), cerebellum, and occipital lobe. The m.3243A>G variant had been found in the patient and MELAS was diagnosed, despite the BG and cerebellum being atypical locations for SLLs in MELAS. Since most cases of m.3243A>G variant MELAS show SLLs in the cerebral cortex, this case is unusual considering the location of the lesion. We emphasize that in the case of lactic acidosis accompanied by neurological symptoms, such as seizures, as in this case, MELAS should be included in the differential diagnosis, even if SLLs are observed in areas other than the cerebral cortex.

• Clinical Nutrition Research
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• v.12 no.1
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• pp.40-53
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• 2023

Differential bitterness perception associated with genetic polymorphism in the bitter taste receptor gene taste 2 receptor member 38 (TAS2R38) may influence an individual's food preferences, nutrition consumption, and eventually chronic nutrition-related disorders including cardiovascular disease. Therefore, the effect of genetic variations on nutritional intake and clinical markers needs to be elaborated for health and disease prevention. In this study, we conducted sex-stratified analysis to examine the association between genetic variant TAS2R38 rs10246939 A > G with daily nutritional intake, blood pressure, and lipid parameters in Korean adults (males = 1,311 and females = 2,191). We used the data from the Multi Rural Communities Cohort, Korean Genome and Epidemiology Study. Findings suggested that the genetic variant TAS2R38 rs10246939 was associated with dietary intake of micronutrients including calcium (adjusted p = 0.007), phosphorous (adjusted p = 0.016), potassium (adjusted p = 0.022), vitamin C (adjusted p = 0.009), and vitamin E (adjusted p = 0.005) in females. However, this genetic variant did not influence blood glucose, lipid profile parameters, and other blood pressure markers. These may suggest that this genetic variation is associated with nutritional intake, but its clinical effect was not found. More studies are needed to explore whether TAS2R38 genotype may be a potential predictive marker for the risk of metabolic diseases via modulation of dietary intake.

• Korean Journal of Clinical Laboratory Science
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• v.37 no.2
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• pp.71-77
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• 2005

We experienced the specimen that contains a hemoglobin variant known as interference from HbAS in October 2003. It was the first case of Hb variants since Samsung Medical Center began conducting glycohemoglobin College of American Pathologists surveys in 1997. The purpose of this study is to share our experience with the specimen and promote the understanding of Hb variants & derivatives. We've performed cross checks to examine HbA1c by using two pieces of equipment; the TOSHOH G7 and BIO-RAD VARIANT-T(turbo), and Automatic High Performance Liquid Chromatography(HPLC) as an analytic measurement method. HPLC provides different fractional information of hemoglobin with a two-dimensional graph as well as numeric results. We have been performing a "Systematic Checking Process". Three specimen suspicious of Hb variants & derivatives were found through this process. College of American Pathologists notified that it is important for users to be aware of the limitation of their glycohemoglobin method to avoid reporting incorrect results due to interference from hemoglobin variants or hemoglobin adducts. Therefore, laboratory findings of Hb variants & derivatives are very important. The experience of qualified technicians with professional knowledge in Hb variants is the most important aspect in finding Hb variants. Korea is homogeneous in race and is not in an area with a higher finding rate of Hb variants. While 1,024 cases of Hb variants have been found in Japan, we do not have specific data on how many cases of Hb variants have been found in Korea. Considering Hb variant cases in Japan, which is geographically close to us, it is presumed that there must be various Hb variant cases in Korea. If domestic laboratories set a systemic protocol and build a network to share our experience in Hb variants, I expect the Korean Hb variants could also be listed on the world's Hb variant list.

• Clinics in Shoulder and Elbow
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• v.2 no.1
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• pp.41-46
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• 1999

Glenoid labrum acts as one of static stabilizer of the glenohumeral joint. It deepens the glenoid socket and may also serve as a chock, acting as a wedge in preventing glenohumeral translation. Two types of variations in labral anatomy were noted by Detrisac and Johnson. Type A has a superior labrum that is detached centrally but well attached peripherally. The type B labrum is well attached centrally and peripherally at all sites. A meniscoid-type labrum is thought to be normal unless there are splits or fragmentation of the overlying labral tissue. Meniscoid type labrum is different from SLAP II lesion in that it has a firm anchoring on the superior labrum. We observed four cases that had a meniscoid variant superior labrum, which covered the superior glenoid unusually larger than normal in the arthroscopic treatment of shoulder pathology including instability and rotator cuff diseases. We did arthroscopic reshaping and debridement of meniscoid variant superior labrum combined with pathologic change of the glenohumeral joint. Further study would be required for understanding the mechanism of the development of meniscoid variant labrum and its clinical significance.

• Korean Journal of Veterinary Research
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• v.6 no.1
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• pp.10-17
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• 1966

The antigenecity of somatic substances of S. pullorum standard strain and variant strain extracted byheat treatment, acid treatment and their modification, ammonium sulfate saturation (60 per cent), trypsin digestion was tested by indirest hemagglutination test and precipitation test and following results were optained. 1. Teatment at $100^{\circ}C$ for an hour of the bacteria could extract the antigen of S. pullorum standard strain and variant strain which was demonstrable by hemagglutination reaction with the human a group and chicken red blood cell. 2. Trypsin digestion was more enhanced its antigenecity in acid extracted antigen of S. pullorum variant strain compare with the S. pullorum standard strain. 3. The extracted antigenic substances of S. pullorum standard strain existed chiefly in the elicited fraction of precipitate at the treatment of ammonium sulfate saturation and after trypsin digestion, its antigenecity was demonstrated by hemagglutination. 4. At the treatment of ammonium sulfate treatment, did not occur the precipicate in acid extracted antigens of S. pullorum variant strain, however, the heal extracted antigen, positive reactions were obtained in both of the precipitate and supernatant fraction of the S. pullorum variant strain by hemagglutination reaction. After trypsin digestion, these fraction also exhibited positive reactions. 5. Precipitation test also tested dub could not detect in any soft of the antigens.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.18
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• pp.8239-8245
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• 2016

The p53 gene is inactivated by the human papillomavirus (HPV) E6 protein in the majority of cervical cancers. Treatment of HeLa S3 cells with siRNA for HPV E6 permitted adenovirus-mediated transduction of a p53 gene linked to an upstream estrogen response element (ERE). Our previous study in non-siRNA treated HHUA cells, which are derived from an endometrial cancer and express estrogen receptor ${\beta}$, showed enhancing effects of an upstream ERE on adenovirus-mediated p53 gene transduction. In HeLa S3 cells treated with siRNA for HPV E6, adenovirus-mediated transduction was enhanced by an upstream ERE linked to a p53 gene carrying a proline variant at codon 72, but not for a p53 gene with arginine variant at codon 72. Expression levels of p53 mRNA and Coxsackie/adenovirus receptor (CAR) mRNA after adenovirus-mediated transfer of an ERE-linked p53 gene (proline variant at codon 72) were higher compared with those after non-ERE-linked p53 gene transfer in siRNA-treated HeLa S3 cells. Western blot analysis showed lower ${\beta}$-tubulin levels and comparatively higher p53/${\beta}$-tubulin or CAR/${\beta}$-tubulin ratios in siRNA-treated HeLa S3 cells after adenovirus-mediated ERE-linked p53 gene (proline variant at codon 72) transfer compared with those in non-siRNA-treated cells. Apoptosis, as measured by annexin V binding, was higher after adenovirus-mediated ERE-linked p53 gene (proline variant at codon 72) transfer compared with that after non-ERE-linked p53 gene transfer in siRNA-treated cells.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.9
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• pp.3961-3968
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• 2015

Background: Variants of human papillomavirus (HPV) show more oncogenicity than do prototypes. The HPV16 Asian variant (HPV16As) plays a major role in cervical cancer of Asian populations. Some amino acid changes in the E6 protein of HPV16 variants affect E6 functions such as p53 interaction and host immune surveillance. This study aimed to investigate activities of HPV16As E6 protein on modulation of expression of miRNA-21 as well as interferon regulatory factors (IRFs) 1, 3, 7 and c-fos. Materials and Methods: Vectors expressing E6 protein of HPV16As (E6D25E) or HPV16 prototype (E6Pro) were constructed and transfected into C33A cells. HCK1T cells expressing E6D25E or E6Pro were established by transducing retrovirus-containing E6D25E or 16E6Pro. The E6AP-binding activity of E6 and proliferation of the transfected C33A cells were determined. MiR-21 and mRNA of interesting genes were detected in the transfected C33A cells and/or the HCK1T cells, with or without treatment by culture medium from HeLa cells (HeLa-CM). Results: E6D25E showed binding activity with E6AP similar to that of E6Pro. Interestingly, E6D25E showed a higher activity of miR-21 induction than did E6Pro in C33A cells expressing E6 protein. This result was similar to the HCK1T cells expressing E6 protein, with HeLa-CM treatment. The miR-21 up-regulation significantly corresponded to its target expression. Different levels of expression of IRFs were also observed in the HCK1T cells expressing E6 protein. Interestingly, when treated with HeLa-CM, IRFs 1, 3 and 7 as well as c-fos were significantly suppressed in the HCK1T cells expressing E6D25E, whereas those in the HCK1T cells expressing E6Pro were induced. A similar situation was seen for IFN-${\alpha}$ and IFN-${\beta}$. Conclusions: E6D25E of the HPV16As variant differed from the E6 prototype in its activities on epigenetic modulation and immune surveillance and this might be a key factor for the important role of this variant in cervical cancer progression.

• IMMUNE NETWORK
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• v.21 no.6
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• pp.38.1-38.8
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• 2021

Recently, a new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (B.1.1.529) Omicron variant originated from South Africa in the middle of November 2021. SARS-CoV-2 is also called coronavirus disease 2019 (COVID-19) since SARS-CoV-2 is the causative agent of COVID-19. Several studies already suggested that the SARS-CoV-2 Omicron variant would be the fastest transmissible variant compared to the previous 10 SARS-CoV-2 variants of concern, interest, and alert. Few clinical studies reported the high transmissibility of the Omicron variant but there is insufficient time to perform actual experiments to prove it, since the spread is so fast. We analyzed the SARS-CoV-2 Omicron variant, which revealed a very high rate of mutation at amino acid residues that interact with angiostatin-converting enzyme 2. The mutation rate of COVID-19 is faster than what we prepared vaccine program, antibody therapy, lockdown, and quarantine against COVID-19 so far. Thus, it is necessary to find better strategies to overcome the current crisis of COVID-19 pandemic.

• 한국생물공학회:학술대회논문집
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• 2005.10a
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• pp.604-605
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• 2005

• 대한임상약리학회:학술대회논문집
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• 2006.11a
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• pp.87-87
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• 2006