• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Tuberculosis and Respiratory Diseases
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• v.49 no.4
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• pp.453-465
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• 2000

Background : Lung carcinogenesis is a multistage process involving alterations in multiple genes and diverse pathway. Mutational activation of oncogenes and inactivation of tumor suppressor genes, and subsequent increased genetic instability are the major genetic events. The p53 gene and FHIT gene as tumor suppressor genes contribute to the pathogenesis of lung cancer, evidenced by mutation, microsatellite instability(MI) and loss of heterozygosity(LOH). Methods : We analysed genetic mutations of p53 and FHIT gene in 29 surgical specimens of nonsmall cell lung cancer using PCR-single strand conformation polymorphism, DNA sequencing and RT-PCR. MI and LOH were analyzed in loci of D3S1285, D9S171, and TP53. Results : In 2 cases, point mutation of p53 gene was observed on exon 5. MI of 3 times and LOH of 14 times were observed in at least one locus. In terms of the location of microsatellite, D3S1285 as a marker of FH1T was observed in 5 cases out of 26 specimens; D9S171 as a marker of p16 in 5 out of 17; and TP53 as a marker of p53 in 7 out of 27. In view of histologic type, squamous cell carcinoma presented higher frequency of microsatellite alteration, compared to others. Mutation of FHIT gene was observed in 11 cases and 6 cases of those were point mutation as a silent substitution on exon 8. FHIT mRNA expression exhibited deletion on exon 6 to 9 in 4 cases among 15 specimens, presenting beta-actin normally. Conclusion : Our results show comparable frequency of genetic alteration in nonsmall cell lung cancer to previous studies of Western countries. Microsatellite analysis might have a role as a tumor marker especially in squamous cell carcinoma. Understanding molecular abnormalities involved in the pathogenesis could potentially lead to prevention, earlier diagnosis and the development of novel investigational approaches to the treatment of lung cancer.

• The Korean Journal of Nuclear Medicine Technology
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• v.15 no.1
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• pp.113-116
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• 2011

Purpose: Acetylcholine receptor antibodies cause acetylcholine receptor loss, which is responsible for failure of the neuromuscular junction in the acetylcholine receptor autoantibody. The disease characterized by muscle weakness and fatigue, myasthenia gravis(MG) occurs when the body inappropriately produces antibodies against acetylcholine receptors, and thus inhibits proper acetylcholine signal transmission. And this reason, the measurement of acetylcholine receptor antibodies can be of considerable value in disease diagnosis. Methods: From 2010. August to September, we tested orderd AchRAb 19 samples to get the results. 1. Pipette $5{\mu}{\ell}$ undiluted patient sera and kit control and add 125I AChR $50{\mu}{\ell}$ and incubate at R.T for 2 hours. 2. Pipette $50{\mu}{\ell}$ of anti-human IgG into each tube, and incubate at $2{\sim}8^{\circ}C$ for 2 hours. 3. Pipette $25{\mu}{\ell}$ precipitation enhancer into each tube and add 1mL washing solution into all tubes. 4. Centrifuge each tube for 20minutes at $2{\sim}8^{\circ}C$ at 1500g. 5. Aspirate or decant the supernatant. 6. Pipette 1 mL washing solution into all tubes and resuspend the pellet and repeat centrifugation. 7. Aspirate or decant the supernatant and count all tubes on a gamma counter. Results: Cut off value is 0.2 nmol/L and the results taken below 0.2 nmol/L are negative, the results above that identified as being positive values. We assayed the 19 patients samples and got 7 positive results. Of which, 6 patients were diagnosed as MG.(85.7%). Conclusions: Acetylcholine Receptor autoantibody test is intended for use by persons only for the quantitative determination of it in human serum. Even if measurement of the antibodies is not a routine test, it can be of considerable value in disease diagnosis.

• Journal of the Society of Cosmetic Scientists of Korea
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• v.42 no.4
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• pp.403-412
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• 2016

The tight junction, one of Intercellular junctions, performs a variety of biological functions by bonding adjacent cells, including the barrier function to control the movement of the electrolyte and water. Recent studies have revealed that unusual expression of tight junction-related genes have been shown to be related in cancer development and progression. Recently, there are many reports that control of tight junction proteins expression is closely related to the skin moisture. In this study, we are focusing on the regulating mechanism of tight junction-associated genes by the steviol and its derivatives. Steviol, used as a sweetner, is known to chemical compound isolated from stevia plant. The MTS (3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)-2H-tetrazolium, inner salt) assay was carried out in HaCaT cells (human keratinocyte cell line) in order to determine the cytotoxicity. As a result, while steviol showing cytotoxicity from $250{\mu}M$, steviol derivatives are not cytotoxic more than $250{\mu}M$ concentration. We have observed a change in the tight junction protein via quantitative real-time PCR. Claudin 8 among tight junction proteins is only significantly reduced up to 30% in the presence of steviol. In addition, cell migration was inhibited by steviol, not by stevioside and rebaudioside. Finally, we could observe that steviol, not stevioside and rebaudioside, is able to increase the skin barrier permeability through the transepithelial electric resistance (TEER) measurements. These results suggest that the steviol and its derivatives are specifically acts on the tight junction related gene expression, but steviol derivatives are more suitable as a cosmetic material.

• Journal of Veterinary Clinics
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• v.27 no.6
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• pp.652-662
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• 2010

The purpose of this experiment was to study the effects of demineralized bone matrix (DBM), calcium sulfate (CS), and calcium metaphosphate (CMP) on osteogenesis of unicortical 5-mm-diameter defects in canine femurs. Seventy-two femoral unicortical defects of nine adult beagles (eighteen femurs, four unicortical femoral defects were made in each femur) were made. Three bone graft substitutive materials such as CS, DBM, and CMP and the empty controls were compared each other. The postimplanted specimens were harvested at week 4, 8, and 24 for radiographic, biochemical and histomorphologic evaluation. In radiograph, CS group appeared to be absorbed rapidly and made new cortical bone. Defects of cortical bone was gradually filled with new bone around bone graft materials in DBM group. Bone graft substitutes weren't absorbed rapidly but, remained performing structural roles in cortical bone after 24 weeks in CMP group. Radiographic intensity of control group showed significantly (p < 0.05) lower compared to that of experimental group. Defects treated with either CS, DBM or CMP had more bone formation than the untreated defects (p < 0.05). The results of analysis in the cortical bone region were deduced the conclusions as follows. Three bone graft materials seemed to accelerate the formation of new bone compared with controls for 24 weeks. CMP group having more or less large particle space was more adequate than DBM group, as well as more compact CS group was more pertinent than CMP group as the glues for bones.

• Journal of Life Science
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• v.17 no.7 s.87
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• pp.877-881
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• 2007

The genetic diversity and population structure of Potentilla freyniana in Korea were determined using genetic variations at 19 allozyme loci. Thirteen of the 19 loci (68.4%) showed detectable polymorphism. Genetic diversity at the population level was high ($H_{EP}$ = 0.270). Total genetic diversity values ($H_T$) varied between 0.190 and 0.584, giving an average overall polymorphic loci of 0.371. The interlocus variation of genetic diversity within populations ($H_S$) was high (0.354). On a per locus basis, the proportion of total genetic variation due to differences among populations ($G_{ST}$) ranged from 0.008 for Fe-2 to 0.310 for Gpi with a mean of 0.065, indicating that about 6.5% of the total allozyme variation was among populations. Wide geographic ranges, perennial herbaceous nature and the persistence of multiple generations are associated with the high level of genetic variation in P. freyniana. The estimate of gene flow based on $G_{ST}$, was high among Korean populations of P. freyniana (Nm =3.57). Although P. freyniana usually propagated by asexually-produced ramets, I could not rule out the possibility that sexual reproduction occurred at a low rate because each ramet may produce terminal flowers.

• Journal of the Korea Concrete Institute
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• v.22 no.3
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• pp.367-374
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• 2010

The transfer slab system is a structural system that transfers the loads from the upper shear wall structure to the lower columns. This is a costly system due to a very thick slab, and the relatively high cost can be mitigated by introducing voids in the slab. However, this system of flat plate containing voids is vulnerable to brittle failure caused by punching shear in vicinity of slab-column connection. Thus, the punching shear capacity of the void system is very important. However, the current code doesn't provide a clear design provision for the strength of slabs with a void section. In this study, experimental study was conducted to investigate the punching shear strength of the void slab system. The shear strength of the specimens was predicted by current code and previous researches. In result, the punching shear strength of the void system is determined as the least value calculated at critical section located a distance d/2 from the face of the column and the center of the void section using the effective area at critical section.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.87-94
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• 2018

We present the case of long-term observation of a patient with chronic kidney disease (CKD) caused by advanced focal segmental glomerulosclerosis (FSGS) resulting from underlying congenital chloride diarrhea (CLD). A 20-year-old woman was admitted for prolonged proteinuria despite conservative treatment for CLD. She was diagnosed with CLD and started taking KCl salt supplementation from the time of birth. Mild proteinuria was first found at 12 years of age, which progressed to moderate proteinuria at 16 years of age. At 16 years of age, CKD stage 2 with FSGS was diagnosed based on the initial assessment of the glomerular filtration rate (GFR) and kidney histology. On admission, we re-assessed her renal function, histology and genetic analysis. GFR had deteriorated to CKD stage 4 and renal histology revealed an advanced FSGS combined with tubulointerstitial fibrosis. A homozygous mutation in the SLC26A3 gene (c.2063-1G>T) was found by diagnostic exome sequencing and may have been inherited from both parents. CLD patients can be more vulnerable to renal injury, which may also cause progression of renal failure. Therefore, even if there is an early diagnosis and adequate salt supplementation, close monitoring of renal function and tailored treatment should be emphasized for renal protection and favorable CLD prognosis.

• Journal of the Korea Concrete Institute
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• v.28 no.4
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• pp.473-480
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• 2016

The purpose of this study is to provide analytical method to reasonably evaluate the complicated failure behaviors of shear friction of reinforced concrete shear wall specimens using grade 500 MPa high-strength bars. A total of 16 test specimens with a variety of variables such as aspect ratio, friction coefficient of interface in construction joint, reinforcement details, reinforcement ratio in each direction, material properties were selected and the analysis was performed by using a non-linear finite element analysis program (RCAHEST) applying the modified shear friction constitutive equation in interface based on the concrete design code (KCI, 2012) and CEB-FIP Model code 2010. The mean and coefficient of variation for maximum load from the experiment and analysis results was predicted 1.04 and 17% respectively and properly evaluated failure mode and overall behavior characteristic until failure occur. Based on the results, the analysis program that was applied modified shear friction constitutive equation is judged as having a relatively high reliability for the analysis results.