• Title/Summary/Keyword: 유전다양성

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Recent Findings on the Role of Epigenetic Regulators in the Small-cell Lung Cancer Microenvironment (소세포폐암의 미세환경에서 후성학적 조절인자의 역할에 대한 최신 연구 동향)

  • Min Ho Jeong;Kee-Beom Kim
    • Journal of Life Science
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    • v.34 no.7
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    • pp.520-530
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    • 2024
  • Tumor suppressor genes (TSGs) play a crucial role in maintaining cellular homeostasis. When the function of these genes is lost, it can lead to cellular plasticity that drives the development of various cancers, including small-cell lung cancer (SCLC), which is known for its aggressive nature. SCLC is primarily driven by numerous loss-of-function mutations in TSGs, often involving genes that encode epigenetic regulators. These mutations pose a significant therapeutic challenge as they are not directly targetable. However, understanding the molecular changes resulting from these mutations might provide insights for developing tumor intervention strategies. We propose that despite the heterogeneous genomic landscape of SCLC, the effects of mutations in patient tumors converge on a few critical pathways that drive malignancy. Specifically, alterations in epigenetic regulators lead to transcriptional dysregulation, pushing mutant cells toward a highly plastic state that makes them immune evasive and highly metastatic. This review will highlight studies showing how an imbalance of epigenetic regulators with opposing functions leads to the loss of immune recognition markers, effectively hiding tumor cells from the immune system. Additionally, we will discuss the role of epigenetic regulators in maintaining neuroendocrine features and how aberrant transcriptional control promotes epithelial-to-mesenchymal transition during tumor development. Although these pathways seem distinct, we emphasize that they often share common molecular drivers and mediators. Understanding the connection among frequently altered epigenetic regulators will provide valuable insights into the molecular mechanisms underlying SCLC development, potentially revealing preventive and therapeutic vulnerabilities for SCLC and other cancers with similar mutations.

Evaluation and Management of Frailty, and Its Association With Pain (노쇠의 평가와 관리, 그리고 통증과의 연관성)

  • Kang Joon Lee
    • Korean Journal of Psychosomatic Medicine
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    • v.32 no.1
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    • pp.1-9
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    • 2024
  • Frailty is a clinical syndrome as an increased vulnerability to stressors, leading to a decrease in physiologic reserves and a decline in the ability to maintain a good homeostasis. This condition leads to an increased risk of hospitalization, disability and mortality. Frailty occurs due to various causes and requires a multidimensional approach. It is also important to detect and manage it early. Frailty is also deeply related to neuropsychiatric problems such as pain and depression. In evaluating frailty, it is desirable to comprehensively consider not only physical areas such as disease, nutrition, movement, and sensory functions, but also psychosocial areas, and representative scales include Fried's physical frailty phenotype and Rockwood's frailty index. Physical activity and appropriate protein intake are important for frailty management, and inappropriate drug use should be reduced and oral care, cognitive function, and falls should also be noted. Frailty and pain can affect each other, and pain can promote frailty. Evidence has been published that hormone and protein abnormalities, immune system activity and inflammatory response, and epigenetic mechanisms work in common in the field of frailty and pain. More extensive and high-quality research should be conducted in the future, and the quality of life will be improved if the results are applied to the suppression and treatment of old age and pain.

Management of the Development of Insecticide Resistance by Sensible Use of Insecticide, Operational Methods (실행방식 측면에서 살충제의 신중한 사용에 의한 저항성 발달의 관리)

  • Chung, Bu-Keun;Park, Chung-Gyoo
    • Korean journal of applied entomology
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    • v.48 no.2
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    • pp.123-158
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    • 2009
  • An attempt was made to stimulate future research by providing exemplary information, which would integrate published knowledge to solve specific pest problem caused by resistance. This review was directed to find a way for delaying resistance development with consideration of chemical(s) nature, of mixture, rotation, or mosaics, and of insecticide(s) compatible with the biological agents in integrated pest management (IPM). The application frequency, related to the resistance development, was influenced by insecticide activity from potentiation, residual period, and the vulnerability to resistance development of chemical, with secondary pest. Chemical affected feeding, locomotion, flight, mating, and predator avoidance. Insecticides with negative cross-resistance by the difference of target sites and mode of action would be adapted to mixture, rotation and mosaic. Mixtures for delaying resistance depend on each component killing very high percentage of the insects, considering allele dominance, cross-resistance, and immigration and fitness disadvantage. Potential disadvantages associated with mixtures include disruption of biological control, resistance in secondary pests, selecting very resistant population, and extending cross-resistance range. The rotation would use insecticides in high and low doses, or with different metabolic mechanisms. Mosaic apply insecticides to the different sectors of a grid for highly mobile insects, spray unrelated insecticides to sedentary aphids in different areas, or mix plots of insecticide-treated and untreated rows. On the evolution of pest resistance, selectivity and resistance of parasitoids and predator decreased the number of generations in which pesticide treatment is required and they could be complementary to refuges from pesticides To enhance the viability of parasitoids, the terms on the insecticides selectivity and factors affecting to the selectivity in field were examined. For establishment of resistant parasitoid, migration, survivorship, refuge, alternative pesticides were considered. To use parasitoids under the pressure of pesticides, resistant or tolerant parasitoids were tested, collected, and/or selected. A parasitoid parasitized more successfully in the susceptible host than the resistant. Factors affecting to selective toxicity of predator are mixing mineral oil, application method, insecticide contaminated prey, trait of individual insecticide, sub-lethal doses, and the developmental stage of predators. To improve the predator/prey ratio in field, application time, method, and formulation of pesticide, reducing dose rate, using mulches and weeds, multicropping and managing of surroundings are suggested. Plant resistance, predator activity, selective insect growth regulator, and alternative prey positively contributed to the increase of the ratio. Using selective insecticides or insecticide resistant predator controlled its phytophagous prey mites, kept them below an economic level, increased yield, and reduced the spray number and fruits damaged.

The Relationship between Conical Pap. Smear Findings and Related Factors for Uterine Cervical Cancer in Ullungdo Females (울릉도 여성들의 자궁경부 세포학적 검사소견과 관련요인과의 관계)

  • 윤인숙;이혜자
    • Biomedical Science Letters
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    • v.4 no.2
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    • pp.143-151
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    • 1998
  • To study the incidence and epidemiological factors of uterine cervical cancer in medical underserved area females, the questionnaire survey and Pap. smear for uterine cervical cancer was done on total 330 women who lived in Ullungdo from 5th to 12th August, 1998. The results were summarized as follows: The age distribution of subjects was 50s (24.5%), 60s (24.5%) and their educational level was “no schooling” (14.2%) and “elementary school” (42.7%). The first coital age of subjects was 19∼21yrs (30.0%), 16∼18yrs (13.9%) and the first pregnancy age was 22∼24yrs (36.7%) and 19∼21yrs (30.0%). The frequency of total pregnancy of subjects was over 5 times (52.1%). The frequency of total delivery was “3∼4 times” (35.5%) and “5∼6 times” (15.2%). 68.8% of subjects had experience of abortion and 80.0% of their husband were on the phimosis. 172 (52.1%) subjects had gynecological symptoms, their symptoms were leukorrhea (48.3%), pruritus (21.5%) and leukorrhea with pruritus (20.3%). 63.9% of total subjects have been received Pap. smear and the frequency of their Pap. smear was “only 1 time” (44.1 %), “irregularly” (30.3%) and the reason of respondents who have not been received Pap. smea. was “no specific symptom” (51.3%). Among the 330 women screened there were negative (45.8%), inflammation (47.3%), trichomoniasis and candidiasis (1.8%), atypical cells (4.5%) and dysplasia (0.6%).

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Improved Acroparesthesia During Enzyme Replacement Therapy in a Patient Lately Diagnosed with Fabry Disease (진단이 지연된 Fabry 병 환자에서 효소대체요법을 통한 사지 말단 동통의 호전을 보인 1례)

  • Yang, Aram;Kim, Jinsup;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.92-95
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    • 2017
  • Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

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The Study of Genetic Diversity for Drought Tolerance in Maize (옥수수 한발 내성에 관한 유전적 다양성 조사)

  • Kim, Hyo Chul;Lee, Yong Ho;Kim, Kyung-Hee;Shin, Seungho;Song, Kitae;Moon, Jun-Cheol;Lee, Byung-Moo;Kim, Jae Yoon
    • Korean Journal of Environmental Biology
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    • v.34 no.4
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    • pp.223-232
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    • 2016
  • Drought is one of important environmental stress for plant. Drought has deleterious effect to plant growth including maize (Zea mays L.) such as vegetative and/or reproductive growth, root extension, photosynthesis efficiency, flowering, anthesis-silking interval (ASI), fertilization, and grain filling. In this study, we screened drought tolerant maize in 21 cultivars from different sources, sixteen NAM parent lines (B73, CML103, CML228, CML247, CML277, CML322, CML333, CML69, Ki11, Ki3, Ky21, M37W, Mo18w, NC350, Oh43 and Tx303), four Korean hybrids (Cheongdaok, Gangdaok, Kwangpyeongok and Pyeonganok) and one Southeast Asian genotype (DK9955). Drought stress (DS) index was evaluated with leaf rolling score at seedling stage and ASI at silking date. The leaf rolling scoring of CML228, DK9955 and Ki11 were determined 1.28, 1.85, 1.86, respectively. However, M37W, Kwangpyeongok, B73 and NC350 were determined over the 3. ASI analysis revealed that CML228, CML103, Cheongdaok, NC350, B73, CML322, Kwangpyeongok and Ki11 are represented less than 5 days under DS and less than 3 days of difference between DS and well-watered (WW), but CML69, Ki3, Pyeonganok, M37W, Mo18w and Gangdaok were represented more than 10 days under DS and more than 8 days of difference between DS and WW. Multi-Dimensional Scaling (MDS) analysis determined CML228, Ki11, and CML322 were regarded as drought tolerance cultivars. Eventually, Ki11 showed genetic similarity with Korean cultivars by QTL analysis and MDS analysis. Ki11 has a potential for development of drought tolerance maize with Korean cultivars.

Comparison of pH, Water Holding Capacity and Color among Meats from Korean Native Chickens

  • Jung, Samooel;Kim, Hyun Joo;Lee, Hyun Jung;Seo, Dong Won;Lee, Jun Heon;Park, Hee Bok;Jo, Cheorun;Nam, Ki Chang
    • Korean Journal of Poultry Science
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    • v.42 no.2
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    • pp.101-108
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    • 2015
  • This study investigated the initial pH measured at 15 min post-mortem, ultimate pH, water holding capacity (WHC), and color of meats obtained from five lines of Korean native chicken (KNC) for the development of breed for high-quality meat. In addition, the effect of sex was examined. In total, 595 $F_1$ progeny (Black [B], Grey-Brown [G], Red-Brown [R], White [W] and Yellow-Brown [Y]) from 70 full-sib families were used. Chickens were slaughtered at 20 wk of age and the measurement traits of all breast and thigh meats from 595 chickens were analyzed. The initial pH at 15 min post-slaughter of the breast and thigh meats was affected by the line and sex of Korean native chicken (P<0.05). However, there was no line and sex effect on ultimate pH and WHC of the breast and thigh meat except that the ultimate pH of thigh meat had line effect. Except for the $L^*$ value of breast meat, the meat color was significantly affected by line and sex (P<0.05). The ultimate pH showed consistently negative correlation with the $L^*$ value and positive correlation with the $a^*$ value in breast and thigh meats. Based on the results, we concluded that the line W in male chickens and the line G and W in female chickens may be good candidates for the selection to develop breed for high-quality meat because these lines showed property of high initial pH or/and ultimate pH.

Fast Systemic Evaluation of Amylose and Protein Contents in Collected Rice Landraces Germplasm Using Near-Infrared Reflectance Spectroscopy (NIRS) (근적외선 분광분석기를 이용한 국내외 재래종 벼 유전자원의 아밀로스 및 단백질에 관한 대량 평가 체계구축)

  • Oh, Sejong;Lee, Myung Chul;Choi, Yu Mi;Lee, Sukyeung;Rauf, Muhammad;Chae, Byungsoo;Hyun, Do Yoon
    • Korean Journal of Plant Resources
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    • v.30 no.4
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    • pp.450-465
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    • 2017
  • This study was conducted to characterize the amylose and protein contents of 4,948 rice landrace germplasm using the NIRS model developed in the previous study. The average amylose content of the germplasm was 20.39% and ranged between 3.97 and 37.13%. The amylose contents in the standard rice were 4.99, 18.63 and 20.55% in Sinseonchal, Chucheong and Goami, respectively. The average protein content was 8.17% and ranged from 5.20 to 17.45%. Protein contents in Sinseonchal, Chucheong and Goami were 6.824, 6.869 and 7.839%, respectively. A total of 62% germplasm were distributed between 20.06% and 27.02% in amylose content. Germplasm of 81.60% represented protein content of 6.78-9.75%. The distinguishable ranges of amylose contents according to origin were 16.58-20.06% in Korea, 20.06-23.25% in Japan, 23.25-27.02% in North Korea, and 27.02-37.13% in China. In the protein content, approximately 30% of Chinese resources ranged from 9.75 to 17.45%, whereas less than 10% were detected in other origin accessions. Fifty resources were selected with low and high amylose ranging from 3.97-6.66% and 30.41-37.13%, respectively. Similarly, fifty resources were selected with low and high protein ranging from 5.20-6.09% and 13.21-17.45%, respectively. Landraces with higher protein could be adapted to practical utilization of food sources.

Design of MAHA Supercomputing System for Human Genome Analysis (대용량 유전체 분석을 위한 고성능 컴퓨팅 시스템 MAHA)

  • Kim, Young Woo;Kim, Hong-Yeon;Bae, Seungjo;Kim, Hag-Young;Woo, Young-Choon;Park, Soo-Jun;Choi, Wan
    • KIPS Transactions on Software and Data Engineering
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    • v.2 no.2
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    • pp.81-90
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    • 2013
  • During the past decade, many changes and attempts have been tried and are continued developing new technologies in the computing area. The brick wall in computing area, especially power wall, changes computing paradigm from computing hardwares including processor and system architecture to programming environment and application usage. The high performance computing (HPC) area, especially, has been experienced catastrophic changes, and it is now considered as a key to the national competitiveness. In the late 2000's, many leading countries rushed to develop Exascale supercomputing systems, and as a results tens of PetaFLOPS system are prevalent now. In Korea, ICT is well developed and Korea is considered as a one of leading countries in the world, but not for supercomputing area. In this paper, we describe architecture design of MAHA supercomputing system which is aimed to develop 300 TeraFLOPS system for bio-informatics applications like human genome analysis and protein-protein docking. MAHA supercomputing system is consists of four major parts - computing hardware, file system, system software and bio-applications. MAHA supercomputing system is designed to utilize heterogeneous computing accelerators (co-processors like GPGPUs and MICs) to get more performance/$, performance/area, and performance/power. To provide high speed data movement and large capacity, MAHA file system is designed to have asymmetric cluster architecture, and consists of metadata server, data server, and client file system on top of SSD and MAID storage servers. MAHA system softwares are designed to provide user-friendliness and easy-to-use based on integrated system management component - like Bio Workflow management, Integrated Cluster management and Heterogeneous Resource management. MAHA supercomputing system was first installed in Dec., 2011. The theoretical performance of MAHA system was 50 TeraFLOPS and measured performance of 30.3 TeraFLOPS with 32 computing nodes. MAHA system will be upgraded to have 100 TeraFLOPS performance at Jan., 2013.

Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male (무정자증 불임남성에서 관찰된 SRY 유전자의 중복을 동반한 일동원체성 derivative Y 염색체)

  • Choi, Eun-Young;Lee, Bom-Yi;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Kim, Shin-Young;Han, You-Jung;Lee, Mee-Bum;Ryu, Hyun-Mee;Seo, Ju-Tae;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.160-164
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    • 2010
  • Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY gene and deletion of Yq12 heterochromatin. The karyotype was 46,X,der(Y)(pter${\rightarrow}$q11.23::p11.2${\rightarrow}$pter).ish der(Y)(DYZ3+,DYZ1-,SRY++), confirmed through a FISH study. Even though the patient possessed an abnormal Y chromosome, testicular biopsy showed normal testicular volumes in the proband, with gonadal hormonal levels in the normal range but bilateral varicocele and hypospermatogenesis. We speculate that the abnormal Y chromosome arose from sister chromatids during Y chromosome recombination or intra chromosomal NAHR (non-allelic homologous recombination) during meiosis in the patient's father or in the very early stages of embryogenesis. The derivative Y chromosome might interfere in the meiotic stage of spermatogenesis, leading to the developmental arrest of germ cells. The present case illustrates that the infertility phenotype can have various causes. Also, it emphasizes the importance of accurate and various genetic analyses and could aid in male infertility treatment.