• 한국환경성돌연변이발암원학회지
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• 제25권1호
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• pp.19-24
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• 2005

The Swedish double mutation (KM670/671NL) of amyloid precursor protein (Swe-APP) is associated with early-onset familial Alzheimer's disease (FAD) and increases amyloid beta peptide production. Although APP/A/3 mediated neurotoxicity is observed both in vitro and in vivo, the relationship between mutant APP expression, A/3 production, and neuronal death observed in the brains of FAD patients remains to be elucidated. In this study, we investigated the mechanisms of Swe-APP-induced cell death in HEK293 and NGF-differentiated PC 12 cells. We found that the expression of Swe-APP induced cytochrome C relase, activation of caspase 3 in HEK 293 and NGF-differentiated PC 12 cells. We also show that the reactive oxygen species (ROS) was detected in Swe-APP expressing HEK 293 cells and NGF-differentiated PC 12 cells and that pretreatment with vitamine E attenuated the cellular death, cytochrome C release induced by Swe-APP expression, indicating the involvement of free radical in these processes. These results suggest one of possible apoptotic mechanisms of Swe-APP which could occur through cytochrome C release from mitochondria and this apoptosis inducing effects could be at least in part, due to ROS generation by Swe-APP expression.

• Asian Pacific Journal of Cancer Prevention
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• 제15권21호
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• pp.9277-9281
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• 2014

Purpose: To investigate clinicopathological features in patients with recurrent colorectal cancer within 1 year and more than 1 year after curative resection. Materials and Methods: We retrospectively evaluated 103 patients with disease recurrence before versus after 1 year of resection. Thirty-two patients (31%) were diagnosed with recurrence less than 1 year after curative resection for colorectal cancer (early recurrence) and 71 (69%) after more than 1 year (non-early recurrence). Results: The early recurrence group displayed a significantly lower overall survival rate for both colon cancer (p=0, 01) and rectal cancer (p<0.001). Inadequate lymph node dissection was a significant predictor for early relapse. There were no statistically significant differences in clinicopathological variables such as age, sex, primary tumor localization, stage, depth of invasion, lymphovascular invasion and perineural invasion between the early and non-early recurrence groups. However, a K-ras mutation subgroup was significantly associated with early recurrence (p<0.001). Conclusions: Poor survival is associated with early recurrence for patients undergoing resection for non-metastatic colorectal cancer, as well as K-ras mutation.

• 한국자원식물학회:학술대회논문집
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• 한국자원식물학회 2022년도 추계학술대회
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• pp.23-23
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• 2022

Rapeseed (Brassica napus L.) is one of the most valuable oilseed crop in the world. It is widely used in various industries, such as food, animal feed, energy and chemical industries. In order to improve the industrial requirements for rapeseed, useful agronomic characteristics (higher yields and disease resistance etc.) and modified oil traits (fatty acid composition and fat content) are important in rapeseed. However, Korea has limiting genetic resources of novel traits in rapeseed. In this research, novel rapeseed mutant genotypes by mutation breeding was developed. The mutant lines were generated by the treatment of the seeds of the original cultivar 'Tamra' with 700 Gy of gamma-ray (⁶⁰Co). Mutants showing varied in flowering time, crude fat content, seed yield and fatty acid content that exhibited stable inheritance of the mutated characteristics from M₅ to M₇ generations were selected. We investigated genetic variation using SNPs identified from GBS analysis in rapeseed mutant lines derived from the gamma-ray, and interactions between the major agronomic and the oil traits. Significantly associated SNP loci were explored along with candidate genes using SNPs obtained by GBS analysis. As a results of association mapping, a total of 322 SNPs were significantly associated with agronomic traits (155 SNPs) and oil traits (167 SNPs). A total of 70 genes were annotated from agronomic characteristics SNPs; among them 7 genes significantly enriched in developmental process, and a total of 70 genes were annotated from crude fat content and fatty acid compositions SNPs; among them, 11genes were significantly enriched in biosynthetic process. These results could be used for the selection of rapeseed cultivar with enhanced qualities and potential economic benefits.

• Childhood Kidney Diseases
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• 제8권1호
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• pp.68-73
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• 2004

Gitelman 증후군과 Bartter 증후군은 모두 상염색체 열성으로 유전되는 신 세뇨관 질환으로 낮은 혈중 포타시움 농도, 대사성 알칼리혈증, 염분 소실, 정상 또는 낮은 혈압을 특징으로 한다. Gitelman 증후군은 thiazide-sensitive Na-Cl cotransporter(NCCT)의 유전자 돌연변이로 발생하며, 저마그네슘혈증과 저칼슘뇨증이 있는 것으로 Bartter 증후군과 구별된다. 환자들은 대개 증상이 없으며, 일정 기간 동안 근 약화, 테타니 등을 보이지만, 대부분의 경우 성인이 되어서 진단된다. 저자들은 11세된 여아에서 간질 발작의 악화로 내원하였다가 우연히 발견된 Gitelman 증후군 1례를 경험하였기에 보고하는 바이다. Gitelman 증후군의 진단은 대사성 알칼리혈증, 저칼륨혈증, 저마그네슘혈증, 저칼슘뇨증에 의해 근거하였다. 저자들은 또한 환자의 SLC12A3 유전자에서 이종접합체성 $^{642}$Arg(CGC)>Cys(TGC)변이와 동종접합체성 가성엑손을 확인하였다.

• 대한유전성대사질환학회지
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• 제15권1호
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• pp.9-17
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• 2015

당원병 Ia형은 glucose-6-phosphatase 효소의 결핍으로 인해 발생되는 상염색체열성 질환으로 특징적인 임상양상으로 대부분 영아기에 진단되나 증상의 경중에 따라 진단 연령이 늦어지기도 한다. 또한 환자 진단 시 유전 양식을 고려한 올바른 유전 상담과 더불어 형제, 자매에 대한 스크리닝이 중요하겠다. 본 연구는 성인기에 진단된 GSD Ia 자매에서의 임상양상의 차이를 기술하고 성인기 합병증에 대한 문헌을 고찰하여, 특히 간질환, 신부전 또는 대사성 질환으로 진료 받는 성인 환자들에서 당원병에 대한 감별과 당원병 진단 시 합병증에 대한 검사와 관리에 대해 필요성을 보고하는 바이다. 저혈당, 고지혈증, 고요산증, 젖산혈증, 대사성 산증, 기관 내 당원 축척에 대한 적절한 검사 및 약물 요법을 통해 급성 및 만성 합병증 예방과 적절한 치료를 위해 의료진의 체계적인 접근 및 노력이 필요하겠다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권1호
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• pp.253-258
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• 2015

Background: Development of squamous cell cancer of head and neck (SCCHN) is associated with human papillomavirus (HPV) infection, which in turn is closely related with expression of $p16^{INK4A}$. Loss of $p16^{INK4A}$ expression by deletion, mutation, or hypermethylation is common in SCCHN. We here evaluated $p16^{INK4A}$ as a prognostic marker of treatment response and survival in our SCCHN patients with laryngeal, hypopharyngeal or nasopharyngeal cancers. Materials and Methods: 131 patients diagnosed with SCCHN between January 2,2006 and July 17, 2010 were examined for $p16^{INK4A}$. The median age was 60 years (15-82 years). Fifty one patients were stage I-II and 80 were stage III-IV. Immunohistochemical expression of $p16^{INK4A}$ was analyzed in pretreatment paraffin-embedded tumor blocks. The influence of $p16^{INK4A}$ status on disease-free survival, and overall survival after treatment was evaluated. Results: $p16^{INK4A}$ positivity was found in 58 patients (44%). Tumor-positivity for$ p16^{INK4A}$ was correlated with improved disease free survival (70.1 months vs 59 months) and improved overall survival (2, 3 and 5-year values; 77% vs 72%, 70% vs 63% and, 63% vs 55%; respectively). On multivariate analysis, stage was determined as independent prognostic factor for disease-free survival. Conclusions: Stage was the major prognostic factor on treatment response and survival in our patients. $p16^{INK4A}$ status predicts better outcome in laryngeal, hypopharyngeal or nasopharyngeal cancer cases treated with surgery plus adjuvant radiochemotherapy as well as with definitive radiation therapy and/or chemotherapy.

• 대한의생명과학회지
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• 제12권4호
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• pp.311-318
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• 2006

The GJB2 mutation is mostly recessive in non-syndromic hearing loss, but specific mutations display a dominant type and syndromic hearing impairment. Both U54K and R75Q mutations present a dominant type in pedigrees with associated skin disorders. The purpose of this study was to investigate whether two GJB2 mutations can exhibit a dominant-negative effect on the growth abrogation and the gap junctional intercellular communication capacity exerted by wild-type connexin 26. A specific mutant region of GJB2 showed a loss of gap junction activity and a dominant negative effect on wild-type GJB2. The two mutants exerted a dominant-negative effect on the GJIC capacity and have independently effected GJB2 regulated growth of Hela cells; however, they have no dominant-negative growth effect on wild-type GJB2. It is proposed that the different mechanisms of the dominant-negative effect on wild-type GJB2 involve cell growth and GJIC function. This study describes mutations found in Korean deaf patients and that are typical of other east Asian regions.

• 대한불안의학회지
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• 제13권1호
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• pp.1-9
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• 2017

We reviewed the scientific literature on psychological effects of Chemical, Biological, Radiological, Nuclear, Explosive (CBRNE) disaster, which is one of the biggest threat to modern society. CBRNE disaster has the potential to cause specific physical symptoms and psychological distress in victims ; moreover, various toxic symptoms and carcinogenesis/mutation would be an important issue. Bioterrorism can cause localized outbreaks of infectious disease or pandemic disaster. Somatization as well as posttraumatic stress symptoms and depression are the characteristic psychological symptoms in CBRNE disaster's victims. CBRNE disasters could lead to large-scale public fear and social chaos due to the difficulties involved in verifying the extent of exposure and unfamiliar area to the common people. In the evacuation process, problems associated with adjustment and conflict between victims and residents should be considered.

• Journal of Chest Surgery
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• 제55권2호
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• pp.174-176
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• 2022

Mediastinal paragangliomas are rare tumors that have only been reported in individual cases or limited case series. Surgical resection of these tumors can be challenging, as they are highly vascular and intimately related to the great vessels. Surgery is usually performed via median sternotomy with or without cardiopulmonary bypass. We present the case of a mediastinal paraganglioma that was resected via a left-sided posterolateral thoracotomy. Histopathology revealed a completely resected 38-mm paraganglioma with a positive station 5 lymph node, indicative of locally aggressive disease. Hereditary paragangliomas are associated with malignant transformation; therefore, genetic testing is important. These tumors do not respond well to chemoradiotherapy, and consequently lifelong surveillance for early detection of recurrence is recommended.

• 한국가금학회지
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• 제38권2호
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• pp.145-154
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• 2011

By a series of positional cloning, we successfully narrowed down the AM candidate region to approximately 1.2 Mbp on GGA2q including 7 functional genes. Subsequently, we identified WWP1 gene as the most likely AM candidate by sequence comparison. The amino acid sequence around the candidate mutation was highly conserved among tetrapods, suggesting that WWP1 is the causative gene of chicken muscular dystrophy. Transfection of mutated WWP1 gene into $C_2C_{12}$ myoblasts disrupted muscle differentiation process. The abnormal muscle differentiation is a characteristic of chicken muscular dystrophy, so we could demonstrate a part of phenotype of the disease. Furthermore, western blotting revealed that accumulation of caveolin-3 protein is limited in damaged muscle of muscular dystrophic chicken, suggesting caveolin-3 may be associated with the pathological change of the disease. We could conclude that WWP1 gene is the responsible one for chicken muscular dystrophy from these results, but the mechanism leading the onset should be clarified in the future. The information will contribute to the study of chicken muscular dystrophy and the corresponding human dystrophies.