• Title/Summary/Keyword: Genetic Nursing

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Effect of immobilization stress on the expression of TH, BDH and CRH gene in rat brain (부동스트레스가 흰쥐 뇌 조직 내 TH, BDH와 CRH 유전자 발현에 미치는 영향)

  • Qian, Yong-Ri;Kim, Yoon-Sik
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.179-185
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    • 2007
  • Purpose : Catecholamines are the neuro-transmitters in the sympathetic nervous system (SNS) and are activated by stress stimulus. Tyrosine hydroxylase (TH) and Dopamine-${\beta}$-Hydroxylase (DBH) are very important enzymes in the catecholamine synthesis. Corticotropin releasing hormone (CRH) is released in the process of reacting to stresses. The aim of this study is to find out what effects immobilization stresses have on the expression of TH, BDH and CRH mRNA in a rat's brains. Methods : We compare expression levels in rat's brains of TH, DBH and CRH mRNA induced by immobilization stresses between the test group and controled group. The expression levels of TH, DBH and CRH mRNA are measured by RT-PCR and the Western Blotting Analysis (WBA). Results : In brains and adrenal glands of the immobilization stress group, the expression levels of TH and DBH mRNAs are significantly two to three times higher (P<0.01), and CRH mRNAs are approximately one and a half times higher (P<0.05) than those of controlled group. Conclusion : This study suggest that the expression levels of TH, DBH and CRH mRNAs are activated by stress stimulus in a rat's brains and adrenal glands.

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The Exonuclease 1 Glu589Lys Gene Polymorphism and Cancer Susceptibility: Evidence Based on a Meta-analysis

  • Bayram, Suleyman
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.6
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    • pp.2571-2576
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    • 2014
  • Background: Published studies on the association between the exonuclease 1 (EXO1) Glu589Lys polymorphism and cancer susceptibility have yielded conflicting results. Thus, a meta-analysis of published studies was performed to assess the possible association. Materials and Methods: All eligible case-control studies published up to January 2013 on the association between the EXO1 Glu589Lys polymorphism and cancer susceptibility were identified by searching PubMed, Web of Science, Science Direct and hand search. Either fixed-effect or random-effect models were used to calculate pooled odds ratios (ORs) with 95% confidence intervals (CIs) using the Comprehensive Meta-Analysis software version 2.2. Results: A total of 4,391 cancer cases and 4,339 controls from 10 studies were included. Overall, no significant association between the EXO1 Glu589Lys polymorphism and cancer susceptibility was observed in either genetic model. However; in subgroup analyses by cancer type, a significant association between EXO1 Glu589Lys and lung cancer risk was found (Lys vs Glu: OR=1.23, 95%CI=1.07-1.41, $p_{heterogeneity}$=0.05). Further, subgroup analysis by ethnicity indicated that there was a statistically increased cancer risk in Asians (Lys vs Glu: OR=1.42, 95%CI=1.30-1.55, $p_{heterogeneity}$=0.07; Lys/Lys vs Glu/Glu: OR=1.93, 95%CI=1.20-3.12, $p_{heterogeneity}$=0.01; Lys/Lys+Glu/Lys vs Glu/Glu: OR=1.52, 95%CI=1.37-1.68, $p_{heterogeneity}$=0.42; Lys/Lys vs Glu/Lys+Glu/Glu: OR=1.68, 95%CI=1.07-2.65, $p_{heterogeneity}$=0.02). However, significant association was absent in Caucasians. Conclusions: This meta-analysis suggests, for the first time, that the EXO1 Glu589Lys polymorphism is not associated with overall cancer susceptibility, although marginal associations were found for lung cancer and Asian subgroups. Additional well-designed studies with larger sample size focusing on different ethnicities and cancer types are needed to confirm these findings.

Association Analysis between Polymorph isms of NOTCH4 Gene and Schizophrenia in Korean Population

  • Lee, Seo-Kyong;Kang, Sung-Wook;Kim, Su-Kang;Kim, Hak-Jae;Kim, Tae;Park, Jin-Kyung;Cho, Ah-Rang;Kim, Jong-Woo;Park, Hyun-Kyung;Kim, Youn-Jung;Choe, Bong-Keun;Song, Ji-Young
    • Molecular & Cellular Toxicology
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    • v.5 no.2
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    • pp.160-164
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    • 2009
  • Notch signaling plays a crucial role in development of the nervous system. Neurodevelopmental hypothesis on etiology of schizophrenia has been implicated. The aim of this study is to determine whether single nucleotide polymorphisms (SNPs) of Notch homolog 4 (Drosophila) (NOTCH4) gene are associated with schizophrenia. This study included 283 schizophrenia patients diagnosed according to DSM-IV and 301 normal control subjects. Control subjects without history of psychiatric disorders were recruited. Four missense SNPs [rs915894 (exon 3, Lys117Gln), rs2071282 (exon 4, Pro204Leu), rs422951 (exon 6, Thr320Ala), and rs17604492 (exon 18, Gly942Arg)] of NOTCH4 gene were genotyped by the direct sequencing method. Multiple logistic regression models (codominant, dominant, and recessive models) were employed to evaluate odds ratio, 95% confidence interval, and p value. For analysis of genetic data, SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs were also used. Of 4 SNPs, rs2071282 was weekly associated with schizophrenia in two alternative models (codominant model, P=0.049; dominant, P=0.041). However, these associations were not significant after Bonferroni correction. At 4 SNPs, one linkage disequilibrium (LD) block was made. This block consisted of rs915894 and rs2071282. In haplotype analysis, AC haplotype was weakly associated with schizophrenia (dominant, P=0.04). This association was disappeared after Bonferroni correction. Our result shows possibility that some SNPs of NOTCH4 gene may be weekly associated with development of schizophrenia in Korean population. However, replication result by other population will be needed.

The Distribution of TaqI RFLP in the Vitamin D Receptor Gene in Korean Vegetarian Men and its Association with Calcaneal Bone Mineral Density (한국인 채식 남성에서 비타민 D 수용체 유전자의 TaqI 다형성의 분포 및 종골의 골밀도와의 관련성)

  • Kang Byung-Yong;Kim So-Yeon;Lee Sang-Jin;Kim Hyun-Hee
    • Environmental Analysis Health and Toxicology
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    • v.21 no.1 s.52
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    • pp.27-34
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    • 2006
  • Numerous studies reported the significant association between genetic polymorphisms in the vitamin D receptor (VDR) gene and various bone phenotypes such as bone mineral density (BMD) and bone quality, although conflicting results were produced. The objective of this study was to investigate the association between a TaqI RFLP in the VDR gene and calcaneal BMD in Korean vegetarian men, and its interaction with nutrition status as an environmental factor. BUA (broadband ultrasound attenuation), SOS (sound of speed) and stiffness index of the calcaneus were measured using an ultrasound bone densitometer in 266 Korean men (age: $mean{\pm}SD;\;50.9{\pm}12.0$ year), and a TaqI RFLP in the VDR gene analysed by PCR-RFLP method. In total subjects, the distribution of TT, Tt and tt genotypes occurred with frequencies of 90.8%, 8.8% and 0.4%, respectively. There were no significant associations between this polymorphism and osteopenia-osteoporosis or several bone phenotypes in our subjects irrespectively of nutrition status (P>0.05). Therefore, our results suggest that a TaqI RFLP in the vitamin D receptor gene does not contribute to the susceptibility to the calcaneal BMD in Korean men.

Carthami Flos Extract Treatment Restored Changes of Gene Expression on ICH Model in Rats (홍화(紅花) 추출물 투여에 의한 뇌출혈 흰쥐 뇌조직의 유전자 발현 조절)

  • Lim, Se-Hyun;Son, Young-Soo;Back, Jin-Ung;Cho, Su-In;Kim, Young-Kyun
    • Journal of Society of Preventive Korean Medicine
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    • v.12 no.3
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    • pp.81-90
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    • 2008
  • Objectives : The pathophysiology of ICH is not fully understood, therefore, the fundamental therapeutic strategies for ICH also not well inspected either. The genetic profile for the effect of Carthami Flos extract on cerebral hemorrhage in rat brain tissue was measured using microarray technique. Genes displaying expressional change on brain damage were selected and the functional analysis on these genes was conducted. Methods : Rats were placed in a stereotaxic frame after intraperitoneal injection of chloralhydrate, and ICH was induced by injection of collagenase type IV and Carthami Flos extract was administered orally. The molecular profile of cerebral hemorrhage in rat brain tissue was measured using microarray technique to identify up- or down- regulated genes in brain tissue. Results : Upon treatment with Carthami Flos extract on the rat having brain damage, many genes show expressional change. The pattern of gene expressional change can be classified into 8 classes in which two types of classes were composed of recovered genes from up or down-regulation by brain damage, respectively. Conclusions : Further analysis using protein interaction database identified some key molecules that can be used for elucidation of therapeutical mechanism of Carthami Flos extract in future.

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Involvement of adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 in diallyl trisulfide-induced cytotoxicity in hepatocellular carcinoma cells

  • Guan, Feng;Ding, Youming;He, Yikang;Li, Lu;Yang, Xinyu;Wang, Changhua;Hu, Mingbai
    • The Korean Journal of Physiology and Pharmacology
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    • v.26 no.6
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    • pp.457-468
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    • 2022
  • It has been demonstrated that APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1) is involved in the regulation of several growth-related signaling pathways and thus closely associated with the development and progression of some cancers. Diallyl trisulfide (DAT), a garlic-derived bioactive compound, exerts selective cytotoxicity to various human cancer cells through interfering with pro-survival signaling pathways. However, whether and how DAT affects survival of human hepatocellular carcinoma (HCC) cells remain unclear. Herein, we tested the hypothesis of the involvement of APPL1 in DAT-induced cytotoxicity in HCC HepG2 cells. We found that Lys 63 (K63)-linked polyubiquitination of APPL1 was significantly decreased whereas phosphorylation of APPL1 at serine residues remained unchanged in DAT-treated HepG2 cells. Compared with wild-type APPL1, overexpression of APPL1 K63R mutant dramatically increased cell apoptosis and mitigated cell survival, along with a reduction of phosphorylation of STAT3, Akt, and Erk1/2. In addition, DAT administration markedly reduced protein levels of intracellular TNF receptor-associated factor 6 (TRAF6). Genetic inhibition of TRAF6 decreased K63-linked polyubiquitination of APPL1. Moreover, the cytotoxicity impacts of DAT on HepG2 cells were greatly attenuated by overexpression of wild-type APPL1. Taken together, these results suggest that APPL1 polyubiquitination probably mediates the inhibitory effects of DAT on survival of HepG2 cells by modulating STAT3, Akt, and Erk1/2 pathways.

A Study on the Relationship between the Present Physical Symptom Distress and Experience of Sanhujori, the Traditional Postpartal Care in Korea - Centered on Women of arthritis - (관절염 여성의 신체적 불편과 산후조리 경험정도와의 관계 연구)

  • Chong, Young-Mi;Yoo, Eun-Kwang
    • Women's Health Nursing
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    • v.5 no.1
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    • pp.111-132
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    • 1999
  • This correlational descriptive study sought to define the relationship between the experience of Sanhujori, Korean tradition non-professional postpartal care after delivery and abortion and present physical symptom distress of arthritis female who visited to outpatient clinic of rheumatic internal medicine at three hospital located in Seoul, Pusan, Chongju, Korea. Data from a convenience sample of 98 women who orally agreed to be respondent were collected from September 1, 1998 to October 31, 1998 for two months by way of interview with semi-structured questionnaire. Data analysis consisted of frequency, percentage, mean, S. D., Pearson Correlation Coefficient, t-test, ANOVA and Scheffe test as a post hoc by SPSS. The results of the study were as follows ; Mean age of participants as 52.8 years and mean number of children 3.3. Mean frequency of child birth was 3.1 times per woman, 67.4% of respondents had menopause, 57.0% did not have Sunhujori after abortion. The health status implies the subjective health status women perceived, which came from the three points of view of the present, comparative with other of same age and changed after delivery. The respondents of 76.1% perceived them as unhealthy and the main sites of physical symptom distress were upper & lower extremities including knee and hand 34.8%, shoulder 26.5%, waist 22.4%. Women perceived the etiology of the arthritis as 'did Sanhujori wrongly' 36.7%, 'aging process' 24.5%, 'stress' 16.3%, 'overwork' 15.3%, 'Immunocompromize' & 'physical constitution' 7.1% respectively, 'character' 3.1%, 'genetic' 2.0%, 'malnutrition' 1.0%. The mean period of Sanhujori after delivery was 20.4 at the first child and 18.1 at the second child. The higher frequency of child birth, the shorter period of Sanhujori. For the subjective evaluation of whether the women did Sanhujori well or not, the rate of 'did Sanhujori well' was the highest rank in the first child and the rate of 'did not particularly Sanhujori well' was the highest rank in the last child. There was a significant positive correlation between physical function disability and rheumatoid arthritis symptom at the level of 1% of significance statistically(r=.406). And a positive correlation between physical function disability and Sanhubyung symptom at the level of 5% of significance statistically(r=.224). There was a significant positive correlation among rheumatoid arthritis symptom, Sanhubyung symptom and menopause symptom at the level of 1%-5% of significance statistically. Most of all, the correlation between Sanhubyung symptom and menopause symptom was the higher than others. There was a negative correlation between the present physical symptom distress and experience of Sanhujori(r=.-130), however it was not significant statistically. However, there was a positive correlation between subjective health status and experience of Sanhujori at the level of 1% of significance statistically(r=.328). In conclusion, this finding reconfirmed the positive relationship between the perceived health status and experience of Sanhujori after delivery among women of arthritis. It provides a challenge to the professional care givers to study further on the effects of Sanhuiori after abortion or delivery on the physical symptom distress from the variouis aspects through the cross-sectional and longitudinal research. The strategy for the development of the appropriate intervention for primary prevention of sequele after childbirth and quality of care for desirable health outcomes for postpartal women with considering deeply on the relationship between women's health and postapartal care.

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The interaction of Apolipoprotein A5 gene promoter region T-1131C polymorphism (rs12286037) and lifestyle modification on plasma triglyceride levels in Japanese

  • Yamasaki, Masayuki;Mutombo, Paulin Beya wa Bitadi;Iwamoto, Mamiko;Nogi, Akiko;Hashimoto, Michio;Nabika, Toru;Shiwaku, Kuninori
    • Nutrition Research and Practice
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    • v.9 no.4
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    • pp.379-384
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    • 2015
  • BACKGROUND/OBJECTIVE: Apolipoprotein A5 gene promoter region T-1131C polymorphism (APOA5 T-1131C) is known to be associated with elevated plasma TG levels, although little is known of the influence of the interaction between APOA5 T-1131C and lifestyle modification on TG levels. To investigate this matter, we studied APOA5 T-1131C and plasma TG levels of subjects participating in a three-month lifestyle modification program. SUBJECTS/METHODS: A three-month lifestyle modification program was conducted with 297 participants (Age: $57{\pm}8years$) in Izumo City, Japan, from 2001-2007. Changes in energy balance (the difference between energy intake and energy expenditure) and BMI were used to evaluate the participants' responses to the lifestyle modification. RESULTS: Even after adjusting for confounding factors, plasma TG levels were significantly different at baseline among three genotype subgroups: TT, $126{\pm}68mg/dl$; TC, $134{\pm}74mg/dl$; and CC, $172{\pm}101mg/dl$. Lifestyle modification resulted in significant reductions in plasma TG levels in the TT, TC, and CC genotype subgroups: $-21.9{\pm}61.0mg/dl$, $-20.9{\pm}51.0mg/dl$, and $-42.6{\pm}78.5mg/dl$, respectively, with no significant differences between them. In a stepwise regression analysis, age, APOA5 T-1131C, body mass index (BMI), homeostasis model assessment-insulin resistance (HOMA-IR), and the 18:1/18:0 ratio showed independent association with plasma TG levels at baseline. In a general linear model analysis, APOA5 T-1131C C-allele carriers showed significantly greater TG reduction with decreased energy balance than wild type carriers after adjustment for age, gender, and baseline plasma TG levels. CONCLUSIONS: The genetic effects of APOA5 T-1131C independently affected plasma TG levels. However, lifestyle modification was effective in significantly reducing plasma TG levels despite the APOA5 T-1131C genotype background.

Prevalence of Hyperhomocysteinemia and Related Factors in a Community-based Health Examination Survey: A Cross-sectional Study (경기도 일개 지역사회 대표집단에서 고호모시스테인혈증의 유병률 및 관련요인에 대한 단면조사연구)

  • Kim, Soo-Jeong;Lim, Kyung-Sook;Song, Mi-Sook;Kang, Yeon-Ji;Lee, Soon-Young
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.5
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    • pp.337-342
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    • 2009
  • Background : Many previous studies have shown that elevated homocysteine in the serum is a well known risk factor for cardiovascular disease and this is associated with other risk factors for cardiovascular disease, but any Korean data on this is limited. Objectives : This study aimed to calculate the prevalence of hyperhomocysteinemia and to analyze the relation between elevated homocysteine and the lifestyle factors of Korean adults. Methods : We conducted a cross-sectional survey that included 650 men and 743 women (age range, 20 to 79 years) who were residents of Gwangju City in Gyeonggi-do. These subjects participated in the health interview and examination survey from November to December 2005. The total homocysteine, total cholesterol, HDL-cholesterol, LDL-cholesterol, and triglyceride in the serum were measured. All the participants had their body composition measured such as height and weight, and we obtained health-related behavioral information through the self-entry questionnaire. Results : Very right-handed skewed distributions of homocysteine were shown in men and women. The prevalence of hyperhomocysteinemia was 22.6% in men and 13.7% in women in Gwangju city. On the multiple logistic regression analysis, hyperhomocysteinemia was associated with age (OR=1.02, 95% CI=1.01-1.04), male gender (OR=1.60, 95% CI=1.02-2.52), severe general physical activity (OR=0.32, 95% CI=0.15-0.69) and nutrient consumption (OR=0.49, 95% CI=0.31-0.76). Conclusions : There is a great prevalence of hyperhomocysteinemia in adults of Gwangju City, Korea and it was associated with both genetic factors and lifestyle risk factors. This study can suggest that comprehensive lifestyle modification is needed in order to diminish the prevalence of hyperhomocysteinemia and to prevent CVD.

Detection of Superior Markers for Polymerase Chain Reaction Diagnosis of Breast Cancer Micrometastasis in Sentinel Lymph Nodes

  • Shargh, Shohreh Alizadeh;Movafagh, Abolfazl;Zarghami, Nosratolah;Sayad, Arezou;Mansouri, Neda;Taheri, Mohammad;Pour, Atefeh Heidary;Iranpour, Mostafa;Ghaedi, Hamid;Montazeri, Vahid;Massoudi, Nilofar;Hashemi, Mehrdad;Mortazavi-Tabatabaei, SA
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.sup3
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    • pp.179-183
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    • 2016
  • Breast cancer is the most prevalent type of cancer among women around the world, and mortality is primarily caused by micro-metastatic disease. The complex mechanisms of breast cancer invasion and metastasis are intrinsically related to the malignant cell type so that early detection of micro-metastases can help prolongation of survival for patient. The aim of the present research work was evaluation of the expression status of mammoglobin protein as a candidate molecular marker in the negative sentinel lymph node (SLN). Fifty tumor specimens, and 50 normal adjacent breast tissue samples from the same patients were selected on the basis of having more than 10% tumor content for RNA extraction from SLNs. Tumor samples and normal adjacent breast tissue were archived in the form of frozen fresh tissue in liquid nitrogen. Real-time PCR was performed on a Bioner life express gradient thermal cycler system. Mammoglobin gene overexpression in breast cancer metastasis was investigated. Single marker results were mammaglobin 66.7% and CK19 50.0%, with 58.3% for the two in combination. Due to improved outcome with at least 3 genes (83.3%), it seems, triple marker evaluation will be most likely useful for detecting micro-metastases instead of studying separate genes.