• Journal of Life Science
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• v.19 no.3
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• pp.362-365
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• 2009

Type 2 diabetes is a typical polygenic disease complex, for which several common risk alleles have been identified. The hepatocyte nuclear factor-$4{\alpha}$ (HNF-$4{\alpha}$), a transcription factor involved in the regulation of serum lipid and glucose levels, has recently been associated with type 2 diabetes. Therefore, we investigated the genotype for the C>T polymorphism at position 12352 of the HNF-$4{\alpha}$ gene in Koreans and compared patient genotypes with those of the control group. 100 patients (63 males, 37 females) with a history of type 2 diabetes (T2DM) and 100 controls (36 males, 64 females) participated in this study. There was no association between 12352 C>T polymorphism in the HNF-$4{\alpha}$ gene and T2DM. The present study shows that HNF-$4{\alpha}$ 12352 C>T polymorphism may not be associated with the pathogenesis of T2DM. Further studies with larger populations may be needed for the development of diagnostic methods at a genetic level such as DNA chip.

• Journal of Life Science
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• v.22 no.10
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• pp.1428-1433
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• 2012

Longevity is an exciting but difficult subject to study because it is determined by complex processes that require the coordinated action of several genetic factors as well as physiological and environmental influences. Genetic approaches have been applied to animal models to identify the molecular mechanism responsible for longevity. Several experimental model organisms obtained over the last decades suggest that the complete deletion of a single gene by gene targeting has proven to be an invaluable tool for the discovery of the mechanisms underlying longevity. The first discovery of long-lived mutants came from Caenorhabditis elegans research, which identified the insulin/IGF-1 pathway as responsible for longevity in this worm. IGF-1 is a multifunctional polypeptide that has sequence similarity to insulin and is involved in normal growth and development of cells. Several factors in the IGF-1 system have since been studied by gene targeting in the control of longevity in lower species, including nematode and fruit fly. In addition, significant progress has been made using mice models to extend the lifespan by targeted mutations that interfere with growth hormone/IGF-1 and IGF-1 signaling cascades. A recent finding that IGF-1 is involved in aging in mice was achieved by using liver-specific knockout mutant mice, and this clearly demonstrated that the IGF-1 signal pathway can extend the lifespan in both invertebrates and vertebrate models. Although the underlying molecular mechanisms for the control of longevity are not fully understood, it is widely accepted that reduced IGF-1 signaling plays an important role in the control of aging and longevity. Several genes involved in the IGF-1 signaling system are reviewed in relation to longevity in genetically modified mice models.

• Journal of Life Science
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• v.29 no.7
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• pp.800-808
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• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.3
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• pp.438-443
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• 2000

Ectopic eruption should be understood as a change in the course of the normal eruption path of a dental bud at any moment its origin. An example of this alteration is the dental transposition, a rare and more specific dental anomaly that may be defined as a change of position between two teeth. This case shows ectopic eruption of transposed mandibular lateral incisor beneath primary first molar at the first transitional period of the mixed dentition The crown of the lateral incisor has tipped distally, compelling root resorption and exfoliation of the adjacent primary cuspid and primary first molar. The reason for such eruption is not clearly understood, but it may involve; (1)trauma history, (2)prolonged retention of the deciduous teeth, (3)premature exfoliation of the deciduous teeth, and (4)genetic factor. Treatment is divided into interceptive and definitive treatment. Ectopically erupting mandibular incisor tends to become transposed with the adjacent cuspid and thus seems to warrant early orthodontic intervention. Early treatment may obviate later extraction or transposition of the incisor and canine in the permanent dentition. Timing is an important factor to be considered regarding in the correction of the lateral incisor transposition. This case advocates treatment with an active orthodontic therapy at the early stage of the mixed dentiton, before the eruption of the permanent cuspid.

• Proceedings of the Korea Contents Association Conference
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• 2011.05a
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• pp.339-340
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• 2011

본 연구는 N말단 아미노산 종류에 따라 단백질의 수명(half-life)이 결정된다는 N-end rule을 기반으로 단백질 수명을 예측해주는 프로그램인 protparam의 결과와 bleach-chase를 이용한 실험 데이터를 비교 분석하였다. 단백질 수명을 결정하는 여러 요인들을 고려하지 않고 한 가지 요인만을 반영한 protparam의 결과는 실제 측정값과 현격한 차이를 나타낸다. 특히 실제 단백질은 NME(N-terminal Methionine Excision) 현상이 일어나는데 이를 고려하지 않고 유전체에서 번역한 그대로의 아미노산 서열을 가지고 단백질 수명을 계산하는 한계를 가지고 있다. 이에 본 연구에서 N말단 아미노산을 순차적으로 제거하여 N-end rule을 적용한 결과도 실험 데이터와 일치하지 않는 결과를 보여주고 있음을 확인하였다. 따라서 현재 사용되고 있는 단백질 수명 예측 프로그램은 이런 문제점을 가지고 있기 때문에 새로운 예측 알고리즘의 개발이 요구된다.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.119-124
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• 2008

Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.

• The Journal of Pediatrics of Korean Medicine
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• v.25 no.3
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• pp.57-69
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• 2011

Objectives: Purpose of this study is to analyze and to estimate which and how much genetic and environmental factors have affected on growth. Also, a method of final height prediction can be developed from this study results. Methods: Correlation analysis and categorical regression analysis were conducted between genetic and environmental factors correlated with the final adult height, through survey from 171 male. Results: Mid parental height, neonatal body weight, intake frequency of beef, chicken, milk, fruits and coffee, sleep quantity and quality during the elementary school and sleep quantity during the middle school have affected on the final adult height. And a regression equation with 0.494 for coefficient of determination was obtained. Conclusions: Mid-parental-height has the most affected on the final adult height. Among environmental factors, food and sleep have significantly affected, but exercise doesn't. Among foods, meal, beef, and milk intake have remarkably affected on the final height, and chicken and fruit also have affected in some degree, but coffee has affected badly. Among sleep habits, sleep quantity during the elementary school has the most affected, sleep quality during the elementary school and sleep quantity during the middle school also have affected in some degree on final height. The younger the age is, the more sleep have affected and sleep quantity have more affected than sleep quality. Neonatal weight also has remarkably affected on the final height. Through this analysis, the final adult height can be predicted using regression equation which covers 49.4% of genetic and environmental factors.

• Journal of Science and Technology Studies
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• v.8 no.1
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• pp.131-158
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• 2008

With the intention of revealing that biological determinism is not the truth verified as scientific facts but ideology which conceals or reproduces the white male-centered social order of western capitalism, this article considered the peculiarities of human being from a perspective of cultural anthropology and examined the social contexts of biological determinism. From these studies, it found that the human is not born, but rather become, that biological determinism, from phrenology and social evolutionism to social biology and IQ determinism, emerged for the breakthrough of crisis in which a number of disclosed social contradictions drove the established ruling order into a collapse, and that it cannot but function as dominant ideology rationalizing racial, ethnic, class and gender discriminations. Hence, bioscience must overcome biological determinism in order to be the hope of both all people and all sort of life. But it is without the transformation of unequal structures that the problem of biological determinism cannot be surmountable at all.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.32-37
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• 2003

Ornithine transcarbamylase(OTC) deficiency is the most common of all the urea cycle disorders. In this X-linked disorder, the hemizygote males are more severely affected than heterozygote females. The Heterozygote female may have mild episodic hyperammonemia symptoms in late infancy or childhood(late onset) or no clinical manifestations. Here we report a 6 year-old girl with late onset OTC deficiency who showed recurrent episodic lethargy, mental confusion and ataxia. On mutation analysis using DNA sequencing after PCR amplification of the 10 exons of OTC gene, G to T transversion in codon 221, causing substitution of asparagine for lysine was detected in exon 6.

• Journal of the Korean Society of Radiology
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• v.15 no.5
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• pp.637-642
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• 2021

Kidney stones are largely classified into kidney stones, ureter stones, and urolithiasis depending on the location of their occurrence. Therefore, in this study, from January 2019 to June 2021, kidney stones found in 112 patients with flank pain or who visited for abdominal ultrasonography at a general hospital located in Daegu were diagnosed with urolithiasis. We wanted to investigate the effect on twinkling artifacts. As a result of the study, the incidence of twinkling artifacts due to kidney stones was relatively high in the longitudinal scan among the scan methods. As the number of kidney stones increased, the incidence of twinkling artifacts increased by 1.296 times (p<0.05). As the kidney stone size increased, the incidence of twinkling artifacts increased by 0.086-fold (p<0.05). It was found that the number and size of kidney stones are factors affecting twinkling artifacts. Since the effect of kidney stones on twinkling artifacts is related to the number and size of kidney stones, continuous attention should be paid to helping the detection of kidney stones by using variables affecting twinkling artifacts.