• Title/Summary/Keyword: 뇌연구

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Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis (DNA 분석을 이용한 ATP7A 유전자의 새로운 돌연변이 발견과 멘케스병의 산전 진단)

  • Choi, Jin-Ho;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.38-44
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    • 2007
  • Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

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Developmental Abnormality in Agricultural Region and Toxicity of the Fungicide Benomyl on Korea salamander, Hynobius leechii (한국산 도롱뇽(Hynobius leechii)의 농경지에서의 배 발생 이상과 살균제 Benomyl의 독성효과)

  • Choi, Yeoung-Ju;Yoon, Chun-Sik;Park, Joo-Hung;Jin, Jung-Hyo;Cheong, Seon-Woo
    • Korean Journal of Ecology and Environment
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    • v.35 no.3 s.99
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    • pp.198-212
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    • 2002
  • A numerical variation and abnormalities were studied on egg bags and embryos of Korean salamander, Hynobius leechii from agricultural habitat. The teratogenic and toxic effects of fungicide benomyl were also investigated with early embryos from non-agricultural habitat. We collected 144 egg bags from agricultural region, and 3418 of early embryos were contained. The lengths of egg bags were varied from 10 to 23 cm and the most frequent length was 19 cm. The number of embryos was varied from 7 to 43, and the most frequent range was 22 to 26. Spontaneous abnormalities were occurred in 406 embryos among 116 egg bags, and 24 kinds of external abnormalities were found. Individuals showing severe external defect were histologically studied and they showed optic dyspalsia, thyroid carcinoma, somatic muscular dysplasia, partial biaxial structure, decrease of red blood cells in the heart, cephalic degeneration and intestinal dysplasia. 385 embryos from non-agricultural region were exposed to 200 nM${\sim}$ 1 ${\mu}$M of benomyl at blastula or gastrula for 12 days. All embryo were dead in the concentration of 1 ${\mu}$M (LD$_{100}$) and 75% of embryos were dead in 800nM of benomyl. Speciflc effect due to benomyl was acrania or cephalic dysplasia and this restult suggests that the benomyl inhibit stongly to the development of neural tissue. These abnormal developments may be caused by antimitotic action, inhibition of tubulin complex, destruction of microtubule, inhibitions of neurulation and closing of neural fold, and by the inhibition of the movement of neural crest cells.

Protective Effect of Green Tea Extract on Amyloid $\beta$ peptide-induced Neurotoxicity (아밀로이드베타 펩타이드 유도성 신경세포독성에 대한 녹차 추출물의 보호 효과)

  • Kim, Young-In;Park, Jeong-Yoon;Choi, Soo-Jung;Kim, Jae-Kyeom;Jeong, Chang-Ho;Choi, Sung-Gil;Lee, Seung-Cheol;Cho, Sung-Hwan;Heo, Ho-Jin
    • Food Science and Preservation
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    • v.15 no.5
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    • pp.743-748
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    • 2008
  • Amyloid $\beta$ peptide ($A{\beta}$) is known to increase oxidative stress in nerve cells, leading to apoptosis that is characterized by free radical formation and lipid peroxidation. Neurodegenerative diseases such as Alzheimer's disease (AD) are characterized by large deposits of $A{\beta}$ in the brain. In our study, neuronal protective effects of green tea, along with water activity (0.813), and leaf storage periods (fresh leaf, or leaf stored for up to 4 weeks) were investigated. We measured protective effects against $A{\beta}$-induced cytotoxicity in neuron-like PC12 cells. Powdered green tea was extracted with distilled water at $70^{\circ}C$ for 5 min, and this extract was freeze-dried and stored at $-20^{\circ}C$ until use. In cell viability assays using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT), the fresh extract, and that obtained after 1 week of leaf storage, showed the best protective effects against $A{\beta}$-induced neurotoxicity. As oxidative stress causes membrane breakdown, the protective effect of green tea extracts was investigated using lactate dehydrogenase (LDH) and trypan blue exclusion assays. LDH release into the medium was inhibited (by 20-25%) in all tests. In addition, all green tea extracts (fresh, or stored before extraction for up to 4 weeks) showed better cell protective effects ($93.3{\pm}1.8-96.2{\pm}2.4$) than did vitamin C ($91.0{\pm}1.6$), used as a positive control. The results suggest that effectiveness of green tea extracts falls with prolonged leaf storage.

Evaluation of Image Quality using SE-EPI and SSH-TSE Techniques in MRDWI (자기공명확산강조영상에서 SE-EPI 와 SSH-TSE 기법을 이용한 영상의 질 평가)

  • Goo, Eun-Hoe
    • Journal of the Korean Society of Radiology
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    • v.15 no.7
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    • pp.991-998
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    • 2021
  • The purpose of this study is to investigate the image quality of the SE-EPI and SSH-TSE technique for MR DWI. Datum were analyzed for 35 PACS transmission datum(Normal part: 12 males, 13 females, Cerebral Infarction: 10(5males and 5females), and average age 68±7.32), randomly selected patients who underwent MRDWI tests. The equipment used was Ingenia CX 3.0T, SSH_TSE and SE-EPI pulse sequence and 32 Ch. head coil were used for data acquisition. Image evaluation was performed on the paired t-test and Wilcoxon tests, and was considered significant when the p value was 0.05 or less. As a result of quantitative analysis of SNR for DWI images, the mean and standard deviation values of 4 parts (WM, GM, BG, Cerebellum) in ADC (s/mm2), Diffusion b=0, 1000 images were higher in SE-EPI techniques(ADC: 120.50 ± 40, b=0: 54.50 ± 35.91, b=1000: 91.61 ± 36.63) than in SSH-TSE techniques(ADC: 99.69 ± 31.10, b=0: 43.52 ± 25.00 , b=1000: 60.74 ± 24.85)(p<0.05). The CNR values for GM-WM, BG-WM sites were also higher in SE-EPI technique (ADC: 116.08 ± 43.30, b=0:27.23 ± 09.10, b=1000: 78.50 ± 16.56) than in SSH-TSE(ADC: 101.08 ± 36.81, b=0: 23.96 ± 07.79 , b=1000: 74.30 ± 14.22). As a visual evaluation of observers, ghost artifact, magnetic susceptibility artifacts and overall image quality for SE-TSE and SSH-TSE all yielded high results from SSH-TSE techniques(ADC:3.6 ± 0.1, 2.8 ± 0.2, b=0: 4.3 ± 0.3, 3.4 ± 0.1 b=1000: 4.3 ± 0.2, 3.5 ± 0.2, p=0.000). In conclusion, the SE-EPI technique obtained an superiority in SNR and CNR measurements using SSH-TSE, SE-EPI. In the qualitative analysis, the SSH-TSE pulse sequence was obtained a high result according to the pulse sequence characteristics.

The Carboxyl-terminal Tail of a Heterotrimeric Kinesin 2 Motor Subunit Directly Binds to β2-tubulin (Heterotrimeric Kinesin 2 모터 단백질의 Carboxyl-말단과 β2-tubulin의 결합)

  • Jeong, Young Joo;Park, Sung Woo;Kim, Sang-Jin;Lee, Won Hee;Kim, Mooseong;Urm, Sang-Hwa;Seog, Dae-Hyun
    • Journal of Life Science
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    • v.29 no.3
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    • pp.369-375
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    • 2019
  • Microtubules form through the polymerization of ${\alpha}-$ and ${\beta}-tubulin$, and tubulin transport plays an important role in defining the rate of microtubule growth inside cellular appendages, such as the cilia and flagella. Heterotrimeric kinesin 2 is a molecular motor member of the kinesin superfamily (KIF) that moves along the microtubules to transport multiple cargoes. It consists of two motor subunits (KIF3A and KIF3B) and a kinesin-associated protein 3 (KAP3), forming a heterotrimeric complex. Heterotrimeric kinesin 2 interacts with many different binding proteins through the cargo-binding domains of the KIF3s, but these binding proteins have not yet been specified. To identify these proteins for KIF3A, we performed yeast two-hybrid (Y2H) screening and found a specific interaction with ${\beta}2-tubulin$ (Tubb2), a microtubule component. Tubb2 was found to bind to the cargo-binding domain of KIF3A but did not interact with KIF3B, KIF5B, or kinesin light chain 1 in the Y2H assay. The carboxyl-terminal region of Tubb2 is essential for interaction with KIF3A. Other Tubb isoforms, including Tubb1, Tubb3, Tubb4, and Tubb5, also interacted with KIF3A in the Y2H screening. However, ${\alpha}1-tubulin$ (Tuba1) did not interact with KIF3A. In addition, an antibody to KIF3A specifically co-immunoprecipitated the KIF3B and KAP3 associated with Tubb2 from mouse brain extracts. In combination, these results suggest that a heterotrimeric kinesin 2 motor protein is capable of binding to tubulin and may transport it in cells.

Stress distribution of molars restored with minimal invasive and conventional technique: a 3-D finite element analysis (최소 침습적 충진 및 통상적 인레이 법으로 수복한 대구치의 응력 분포: 3-D 유한 요소 해석)

  • Yang, Sunmi;Kim, Seon-mi;Choi, Namki;Kim, Jae-hwan;Yang, Sung-Pyo;Yang, Hongso
    • Journal of Dental Rehabilitation and Applied Science
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    • v.34 no.4
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    • pp.297-305
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    • 2018
  • Purpose: This study aimed to analyze stress distribution and maximum von Mises stress generated in intracoronal restorations and in tooth structures of mandibular molars with various types of cavity designs and materials. Materials and Methods: Three-dimensional solid models of mandible molar such as O inlay cavity with composite and gold (OR-C, OG-C), MO inlay cavity with composite and gold (MR-C, MG-C), and minimal invasive cavity on occlusal and proximal surfaces (OR-M, MR-M) were designed. To simulate masticatory force, static axial load with total force of 200 N was applied on the tooth at 10 occlusal contact points. A finite element analysis was performed to predict stress distribution generated by occlusal loading. Results: Restorations with minimal cavity design generated significantly lower values of von Mises stress (OR-M model: 26.8 MPa; MR-M model: 72.7 MPa) compared to those with conventional cavity design (341.9 MPa to 397.2 MPa). In tooth structure, magnitudes of maximum von Mises stresses were similar among models with conventional design (372.8 - 412.9 MPa) and models with minimal cavity design (361.1 - 384.4 MPa). Conclusion: Minimal invasive models generated smaller maximum von Mises stresses within restorations. Within the enamel, similar maximum von Mises stresses were observed for models with minimal cavity design and those with conventional design.

The Heterotrimeric Kinesin-2 Family Member KIF3A Directly Binds to Creatine Kinase B (Heterotrimeric kinesin-2의 KIF3A와 creatine kinase B의 결합)

  • Jeong, Young Joo;Park, Sung Woo;Seo, Mi Kyoung;Kim, Sang-Jin;Lee, Won Hee;Kim, Mooseong;Urm, Sang-Hwa;Lee, Jung Goo;Seog, Dae-Hyun
    • Journal of Life Science
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    • v.31 no.3
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    • pp.257-265
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    • 2021
  • Heterotrimeric kinesin-2 is a molecular motor protein of the kinesin superfamily (KIF) that moves along a microtubule plus-end directed motor protein. It consists of three different motor subunits (KIF3A, KIF3B, and KIF3C) and a kinesin-associated protein 3 (KAP3) that form a heterotrimeric complex. Heterotrimeric kinesin-2 interacts with many different binding proteins through the cargo-binding domain of the KIF3s. The activity of heterotrimeric kinesin-2 is regulated to ensure that the cargo is directed to the right place at the right time. How this regulation occurs, however, remains in question. To identify the regulatory proteins for heterotrimeric kinesin-2, we performed yeast two-hybrid screening and found a specific interaction with creatine kinase B (CKB), which is the brain isoform of cytosolic creatine kinase enzyme. CKB bound to the cargo-binding domain of KIF3A but did not interact with the KIF3B, KIF5B, or KAP3 in the yeast two-hybrid assay. The carboxyl (C)-terminal region of CKB is essential for the interaction with KIF3A. Another protein kinase, CaMKIIa, interacted with KIF3A, but GSK3a did not interact with KIF3A in the yeast two-hybrid assay. KIF3A interacted with GST-CKB-C but not with GSK-CKB-N or GST alone. When co-expressed in HEK-293T cells, CKB co-localized with KIF3A and co-immunoprecipitated with KIF3A and KIF3B but not KIF5B. These results suggest that the CKB-KIF3A interaction may regulate the cargo transport of heterotrimeric kinesin-2 under energy-compromised conditions in cells.

The Study on the Concept of Earthly Immortality of Daesoonjinrihoe, Yeoju Headquarters (대순진리회의 지상신선 세계관 연구- 여주본부도장을 중심으로 -)

  • Min, Byeong-sam
    • Journal of the Daesoon Academy of Sciences
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    • v.27
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    • pp.35-77
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    • 2016
  • All humans are subject to death, and this creates a motivation to construct theories regarding divine immorality (神仙思想) in order to satisfy the human desire (慾望) for eternal life (長生) and the avoidance of death(不死). In the concept of Earthly immortality (地上神仙) from Daesoonjinrihoe (大巡眞理會), devotees do not carry out their work in a deep mountain ranges far removed from human society. Instead, they cultivate themselves in Dao from within the human society (自身修道), chant incantation to benefit others, aspire towards immortal status (神仙), and promote harmony between divine beings and humans (神人調和) all without ever leaving human society. In the Yeoju Headquarters of Daesoonjinrihoe, members created a new place called a "Dojang (道場 temple complex)" to live as immortal humans in the here and now while they chant incantations (呪文) as an act of participation in the Immortal Realm of the Later World (後天仙境). Some key religious and fengshui (geomancy) oriented symbols used within the Yeoju Headquarters of Daesoonjinrihoe appear as follows: first, Cheonggye Tower (靑溪塔) represents faith in traditional astrology (星宿神仰) and reverence for the God of the Nine Heavens (九天上帝). Second, Daesoonjinrihoe (大巡眞理會) emphasizes the Saturn associated earth element from five phases (五行土星) and this represent the Later World due to numerological associations. Third, the Fengshui of the Yeoju Headquarters of Daesoonjinrihoe is a highly propitious (吉地) and also accentuates the Saturn associated earth element from five phases. Fourth, Yeongdae (靈臺) in the Yeoju Headquarters of Daesoonjinrihoe faces west where Jeungsan will come accompanied by other gods (神命). Fifth, the Yeoju Headquarters of Daesoonjinrihoe is in charge of property and receives happiness and prosperity (福祿) through its Fengshui. The Yeoju Headquarters of Daesoonjinrihoe is an earthly paradise for immortals (地上天國) forged to achieve the ultimate purpose of transforming its members into the Dotong (道通, those enlightened in Dao and thereby successful in their every endeavor) of the Later World. In accordance with Daesoon thought, the Saturn associated earth element from five phases is positioned in the middle of incantations, and Yeongdae, other architecture, and landscaping has all been arranged to correspond with Daesoon geomancy and numerology (後天數理).

Scientific Awareness appearing in Korean Tokusatsu Series - With a focus on Vectorman: Warriors of the Earth (한국 특촬물 시리즈에 나타난 과학적 인식 - <지구용사 벡터맨>을 중심으로)

  • Bak, So-young
    • (The) Research of the performance art and culture
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    • no.43
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    • pp.293-322
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    • 2021
  • The present study examined the scientific awareness appearing in Korean tokusatsu series by focusing on Vectorman: Warriors of the Earth. As a work representing Korean tokusatsu series, Vectorman: Warriors of the Earth achieved the greatest success among tokusatsu series. This work was released thanks to the continued popularity of Japanese tokusatsu since the mid-1980s and the trend of robot animations. Due to the chronic problems regarding Korean children's programs-the oversupply of imported programs and repeated reruns-the need for domestically produced children's programs has continued to come to the fore. However, as the popularity of Korean animation waned beginning in the mid-1990s, inevitably the burden fr producing animation increased. As a result, Vectorman: Warriors of the Earth was produced as a tokusatsu rather than an animation, and because this was a time when an environment for using special effects technology was being fostered in broadcasting stations, computer visual effects were actively used for the series. The response to the new domestically produced tokusatsu series Vectorman: Warriors of the Earth was explosive. The Vectorman series explained the abilities of cosmic beings by using specific scientific terms such as DNA synthesis, brain cell transformation, and special psychological control device instead of ambiguous words like the scientific technology of space. Although the series is unable to describe in detail about the process and cause, the way it defines technology using concrete terms rather than science fiction shows how scientific imagination is manifesting in specific forms in Korean society. Furthermore, the equal relationship between Vectorman and the aliens shows how the science of space, explained with the scientific terms of earth, is an expression of confidence regarding the advancement of Korean scientific technology which represents earth. However, the female characters fail to gain entry into the domain of science and are portrayed as unscientific beings, revealing limitations in terms of scientific awareness.

Autonomic Nervous Response of Female College Students with Type D Personality during an Acute Stress Task: Heart Rate Variability (Type D 성격 여대생의 급성 스트레스에 따른 자율신경계 반응 : 심박률 변동성을 중심으로)

  • Ko, Seon-Young;Kim, Myung-Sun
    • Korean Journal of Health Psychology
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    • v.14 no.2
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    • pp.277-292
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    • 2009
  • This study investigated the responses of the autonomic nervous system of individuals with Type D personality during an acute stressful situation. Twenty-three female students of Type D personality and 23 female students with non-Type D personality. Stroop Color-Word Task was used to induce a stressful situation, heart rate variability (HRV) was used to measure the responses of the autonomic nervous system during the baseline, acute stress, recovery periods. To analyze the data, the repeated measures analysis of variance was used to compare the autonomic nervous system of the Type D group to that of the non-Type D group. Regression analysis is used to determine if the Type D scale and stress vulnerability predicted the activities of the autonomic nervous system during the baseline period. The results of this study demonstrated that the Type D group's normalized low frequency (LF norm) and ratio of low frequency to high frequency (LF/HF ratio) were higher than those for the non-Type D group, while its normalized high frequency (HF norm) was lower than that for the non-Type D group in all three periods. There were no statistically significant differences among the three periods in terms of LF norm, HF norm, and LF/HF ratio in the Type D group. The study demonstrated that the total scores of the Type DS-14 and scores of social inhibition and negative affect were independent predictors of LF norm and HF norm during the baseline. The Type D group showed increased activation of the sympathetic nervous system and/or decreased activation of the parasympathetic nervous system. These results support the hypothesis that the Type D personality is vulnerable to the stress. Also, the highly activated sympathetic and/or lowly activated parasympathetic nervous systems, which were observed in the Type D group during the baseline, indicated that the Type D individual is susceptible to psychosomatic disorders.