• Title/Summary/Keyword: physical phenotypes

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Physical Phenotype Analysis in Obesity Study in vivo (마우스를 이용한 비만연구에서 활용되는 물리적 표현형 분석 기술)

  • Kim, Hyunkyung;Go, Gwang-woong
    • Food Science and Industry
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    • v.51 no.1
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    • pp.37-44
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    • 2018
  • The prevalence of obesity is continually increasing in South Korea; about 1/3 of adults are diagnosed with obesity and 1/2 of adults are overweight in 2016. Abnormal body fat mass increased the risk factors of metabolic syndrome (including hypertension, type II diabetes, dyslipidemia), chronic kidney failure, osteoarthritis, and cardiovascular disease. Ministry of Food and Drug Safety (MFDS) in Korea established the validation and approval system for "functional food" based on related laws and regulations. According to the guideline of MFDS, the biomarkers for obesity study in vitro, in vivo, and clinical trial are well summarized. The analysis of physical phenotypes is necessary condition to study further molecular phenotypes and pathway analysis in vivo study. Thus, we will review currently available physical phenotype analysis; dual energy X-ray absorptiometry (DEXA) and Oxylet gas analysis will be examined in-depth.

Performance and competitiveness of red vs. green phenotypes of a cyanobacterium grown under artificial lake browning

  • Erratta, Kevin;Creed, Irena;Chemali, Camille;Ferrara, Alexandra;Tai, Vera;Trick, Charles
    • ALGAE
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    • v.36 no.3
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    • pp.195-206
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    • 2021
  • Increasing inputs of dissolved organic matter (DOM) to northern lakes is resulting in 'lake browning.' Lake browning profoundly affects phytoplankton community composition by modifying two important environmental drivers-light and nutrients. The impact of increased DOM on native isolates of red and green-pigmented cyanobacteria identified as Pseudanabaena, which emerged from a Dolichospermum bloom (Dickson Lake, Algonquin Provincial Park, Ontario, Canada) in 2015, were examined under controlled laboratory conditions. The genomes were sequenced to identify phylogenetic relatedness and physiological similarities, and the physical and chemical effects of increased DOM on cellular performance and competitiveness were assessed. Our study findings were that the isolated red and green phenotypes are two distinct species belonging to the genus Pseudanabaena; that both isolates remained physiologically unaffected when grown independently under defined DOM regimes; and that neither red nor green phenotype achieved a competitive advantage when grown together under defined DOM regimes. While photosynthetic pigment diversity among phytoplankton offers niche-differentiation opportunities, the results of this study illustrate the coexistence of two distinct photosynthetic pigment phenotypes under increasing DOM conditions.

A Promoter SNP (rs1800682, -670C/T) of FAS Is Associated with Stroke in a Korean Population

  • Kang, Sung-Wook;Chung, Joo-Ho;Kim, Dong-Hwan;Yun, Dong-Hwan;Yoo, Seung-Don;Kim, Hee-Sang;Seo, Wan;Yoon, Jee-Sang;Baik, Hyung-Hwan
    • Genomics & Informatics
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    • v.8 no.4
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    • pp.206-211
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    • 2010
  • The Fas (TNF receptor superfamily, member 6) (FAS)/FAS ligand (FASLG) interaction plays a central role in the regulation of programmed cell death. FAS and FASLG polymorphisms in promoter regions affect transcriptional activities. To investigate whether FAS and FASLG polymorphisms are associated with the development and clinical phenotypes of stroke, 2 promoter single nucleotide polymorphisms (SNPs) in FAS (rs1800682, -670C/T) and FASLG (rs763110, -844C/T) were selected and genotyped by direct sequencing in 220 stroke patients [107 ischemic stroke (IS), 77 intracerebral hemorrhage (ICH), and 36 subarachnoid hemorrhage (SAH)] and 369 control subjects. For the analysis of clinical symptoms, all stroke patients were divided into 3 clinical phenotypes according to the respective results of the National Institutes of Health Stroke Survey (NIHSS) and the Modified Barthel Index (MBI) and the presence or absence of complex regional pain syndrome (CRPS). The SNPStats, SNPAnalyzer, and Helixtree programs were used to analyze the genetic data. Multiple logistic regression models (codominant, dominant, and recessive) were used to estimate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. The promoter SNP rs1800682 was associated with stroke in the codominant (OR=0.48, 95% CI=0.25-0.94, p=0.04) and dominant models (OR=0.51, 95% CI=0.30-0.87, p=0.011). However, a FASLG SNP (rs763110) was not in Hardy-Weinberg equilibrium (p<0.05). In the analysis of stroke types, rs1800682 was associated with IS in the codominant (OR=0.30, 95% CI=0.12-0.74, p=0.025), dominant (OR=0.44, 95% CI=0.23-0.88, p=0.018), and recessive models (OR=0.45, 95% CI=0.21-0.99, p=0.042). The genotype frequencies of rs1800682 were different between ICH and controls in the dominant model (OR=0.49, 95% CI=0.26-0.94, p=0.031) but not between SAH and controls. In the analysis of clinical symptoms, however, rs1800682 was not related to the 3 clinical phenotypes (NIHSS, MBI, and CRPS). These results suggest that a promoter SNP (rs1800682, -670C/T) in FAS may be associated with the development of stroke in the Korean population.

The Protein Polymorphism of Haptoglobin in Korean Elite Athletes

  • Kang, Byung-Yong;Jang, Dai-Ho;Kim, Seon-Jeong;Lee, Kang-Oh
    • Proceedings of the Korean Society of Toxicology Conference
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    • 2003.05a
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    • pp.88-88
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    • 2003
  • n view of the role of haptoglobin as a candidate for physical performance, we investigated the protein polymorphism of the haptoglobin in elite Korean male athletes. The serum sample was collected from 120 Korean male eliteathletes. The haptoglobin phenotypes were determined by polyacrylamide gel electrophoresis, followed by peroxidase staining. (omitted)

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A Case of Adrenoleukodystrophy Diagnosed as Hyponatremic Dehydration (저나트륨혈증성 탈수증으로 진단된 소아 부신백질이영양증 1례)

  • Lee, Sang Heon;Kim, HyungJin;Kwon, Young-Se;Kim, Soon-Ki;Lee, Ji-Eun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.1
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    • pp.66-70
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    • 2014
  • X-linked adrenoleukodystrophy (ALD) is a uncommon metabolic disorder which derived by peroxismal ${\beta}$-oxidation and elevation of serum very long chain fatty acid (VLCFA). VLCFA is mainly accumulated in the myelin of the central nervous system and adrenal cortex, by which the expressed symptoms of this disease are mainly neurologic and endocrinologic (such as adrenal insufficiency). The mutations in the ABCD1 gene causes X-linked ALD, nevertheless its phenotypes and genotypes are poorly coordinated. We report the case of a 12-year-old boy with X-linked ALD who developed vomiting, fatigue and poor oral intake. Severe dehydration and hyponatremia were found in initial physical examination and laboratory test, but his motor/sensory nerve function and mental status were completely normal. We diagnosed ALD with diffuse high-intensity signal in both parietotemporal cerebellar white matter in brain MRI and elevated serum VLCFA. Later, we confirmed a novel c.1635-1G>A (IVS6-1G>A) mutations of the ABCD1 gene. With the discrepancy between its phenotypes and genotypes, various phenotypes could be seen in X-ALD patient. Careful examination and further studies for these patients will be needed.

Distinct Repressive Properties of the Mammalian and Fish Orphan Nuclear Receptors SHP and DAX-1

  • Park, Yun-Yong;Teyssier, Catherine;Vanacker, Jean-Marc;Choi, Hueng-Sik
    • Molecules and Cells
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    • v.23 no.3
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    • pp.331-339
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    • 2007
  • It has been suggested that the structure and function of nuclear receptors are evolutionally conserved. Here, we compare the molecular functions of the nile tilapia (Oreochromis niloticus) small heterodimer partner (nSHP/NR0B2) and the Dosage-sensitive sex reversal AHC critical region on X chromosome gene 1 (nDAX-1/NR0B1) with those of human SHP and DAX-1 (hSHP and hDAX-1, respectively). We found that, upon transient cotransfection of human cells, nDAX-1 repressed the activity of tilapia SF-1 (nSF-1) but not that of human SF-1, although the physical interaction with human SF-1 was retained. Similarly, nSHP repressed the activity of nSF-1, whereas hSHP did not, pointing to divergent evolution of SHP/SF-1 in fish and human. We thus propose that the repressive functions of SHP and DAX-1 have been conserved in fish and mammals although with different transcriptional targets and mechanisms. These differences provide new insights into the physiological diversification of atypical orphan nuclear receptors during vertebrate evolution.

Etoposide Induces Mitochondrial Dysfunction and Cellular Senescence in Primary Cultured Rat Astrocytes

  • Bang, Minji;Kim, Do Gyeong;Gonzales, Edson Luck;Kwon, Kyoung Ja;Shin, Chan Young
    • Biomolecules & Therapeutics
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    • v.27 no.6
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    • pp.530-539
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    • 2019
  • Brain aging is an inevitable process characterized by structural and functional changes and is a major risk factor for neurodegenerative diseases. Most brain aging studies are focused on neurons and less on astrocytes which are the most abundant cells in the brain known to be in charge of various functions including the maintenance of brain physical formation, ion homeostasis, and secretion of various extracellular matrix proteins. Altered mitochondrial dynamics, defective mitophagy or mitochondrial damages are causative factors of mitochondrial dysfunction, which is linked to age-related disorders. Etoposide is an anti-cancer reagent which can induce DNA stress and cellular senescence of cancer cell lines. In this study, we investigated whether etoposide induces senescence and functional alterations in cultured rat astrocytes. Senescence-associated ${\beta}$-galactosidase (SA-${\beta}$-gal) activity was used as a cellular senescence marker. The results indicated that etoposide-treated astrocytes showed cellular senescence phenotypes including increased SA-${\beta}$-gal-positive cells number, increased nuclear size and increased senescence-associated secretory phenotypes (SASP) such as IL-6. We also observed a decreased expression of cell cycle markers, including PhosphoHistone H3/Histone H3 and CDK2, and dysregulation of cellular functions based on wound-healing, neuronal protection, and phagocytosis assays. Finally, mitochondrial dysfunction was noted through the determination of mitochondrial membrane potential using tetramethylrhodamine methyl ester (TMRM) and the measurement of mitochondrial oxygen consumption rate (OCR). These data suggest that etoposide can induce cellular senescence and mitochondrial dysfunction in astrocytes which may have implications in brain aging and neurodegenerative conditions.

Relationship between Endurance Performance and Genetic Polymorphisms of Mitochondrial DNA in Korean Male Elite Athletes

  • Jang Dai-Ho;Kang Byung-Yong;Jung In-Geun;Oh Sang-Duk;Lee Kang-Oh
    • Biomedical Science Letters
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    • v.11 no.2
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    • pp.227-235
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    • 2005
  • It has been reported that endurance performance is influenced by various environmental and genetic factors. In view of an important role of human mitochondrial DNA (mtDNA) as a candidate for endurance performance, this study focused on the relationships between $VO_{2max}$ value as a measure of endurance performance or other associated phenotypes and four mtDNA restriction fragment length polymorphisms (RFLPs) (Bam HI, Hinc II1, Hinc II2 and Nci I) in the NADH dehydrogenase subunit 5 and one (Kpn I) in the D-loop region of mtDNA. MtDNA was purified from buffy coat in human peripheral blood, and PCR-RFLP analysis was performed to estimate the allele frequencies of each polymorphism in the mtDNA. There were no significant differences in allele distributions of all polymorphisms studied between male athletes and controls, respectively (P>0.05). However, the Kpn I polymorphism was significantly associated with diastolic blood pressure level in male athletes, respectively (P<0.05). Therefore, our results suggest that this polymorphism might be one of the factors modifying inter-individual difference in cardiovascular risk. Further studies using larger sample size will be required to generalize these results from the study described herein.

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Clinical characteristics in Taiwanese women with polycystic ovary syndrome

  • Hsu, Ming-I
    • Clinical and Experimental Reproductive Medicine
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    • v.42 no.3
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    • pp.86-93
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    • 2015
  • Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age.

Role of CaBud6p in the Polarized Growth of Candida albicans

  • Song Yun-Kyoung;Kim Jeong-Yoon
    • Journal of Microbiology
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    • v.44 no.3
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    • pp.311-319
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    • 2006
  • Bud6p is a component of a polarisome that controls cell polarity in Saccharomyces cerevisiae. In this study, we investigated the role of the Candide albicans Bud6 protein (CaBud6p) in cell polarity and hyphal development. CaBud6p, which consists of 703 amino acids, had 37% amino-acid sequence identity with the Bud6 protein of S. cerevisiae. The homozygous knock-out of CaBUD6 resulted in several abnormal phenotypes, such as a round and enlarged cells, widened bud necks, and a random budding pattern. In hypha-inducing media, the mutant cells had markedly swollen tips and a reduced ability to switch from yeast to hypha. In addition, a yeast two-Hybrid analysis showed a physical interaction between CaBud6p and CaAct1p, which suggests that CaBud6p may be involved in actin cable organization, like Bud6p in S. cerevisiae. Taken together, these results indicate that CaBud6 plays an important role in the polarized growth of C. albicans.