• Korean Journal of Acupuncture
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• 제38권3호
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• pp.133-139
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• 2021

Objectives : Parkinson's disease is a neurodegenerative disease caused by a decrease in the dopaminergic neurons in the substantia nigra. The abnormal expression of solute carrier family 6 member 4 (Slc6a4) has been reported in patients with Parkinson's disease. Methods : In this study, we used MPTP to examine the changes in the expression of Slc6a4 in the brain of mice with Parkinson's disease and investigate its effect on dopaminergic neuronal cell death. Results : In the examination of the Slc6a4 expression in the substantia nigra of MPTP-treated mice for 4 weeks. The gene expression was increased compared to the normal group. To investigate the relationship between Slc6a4 and dopaminergic neurons, we performed a study using siRNA of Slc6a4 in the dopaminergic neuronal cell line SH-SY5Y. Using the siRNA of Slc6a4 to evaluate gene expression, it revealed that the tyrosine hydroxylase (TH) expression increases when Slc6a4 decreases. Moreover, this confirms its effects on the dopaminergic neurons. Additionally, through the evaluation of factors related to apoptosis, in particular, it was established that the value of bax/bcl2 decreased and was affected. These results suggest that a decreased Slc6a4 expression induces an increase in TH expression, providing a mechanism of action for dopaminergic neurons regulated by Slc6a4 expression. Conclusions : Slc6a4 is deemed to be involved in the regulation of dopaminergic neurons, suggesting that an increased Slc6a4 expression induced by MPTP may influence a reduction of dopaminergic neurons.

• 생물정신의학
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• 제16권2호
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• pp.121-126
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• 2009

Objectives : The serotonin transporter gene(SLC6A4) is one of the most widely studied candidate genes in autism spectrum disorder(ASD), but there have been conflicting results from studies into the association between SLC6A4 and ASD. The aim of this study was to evaluate the association between single nucleotide polymorphisms(SNPs) in the SLC6A4 gene and ASD in the Korean population. Methods : We selected 12 SNPs in SLC6A4 and observed the genotype of 151 Korean ASD trios. We tested the family-based association for each individual polymorphism and haplotype by using the standard TDT method in Haploview(http://www.broad.mit.edu/mpg/haploview/). Results : Through transmission-disequilibrium testing and haplotype analysis, we could not find any statistically significant transmitted allele or haplotype. In addition, a case-control association test with Korean HapMap data did not reveal any statistical significance. Conclusion : Although serotonin-related genes must be considered candidate genes for ASD, we suggest that common SNPs of SLC6A4 are not important markers for associations with Korean ASD.

• 생명과학회지
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• 제18권12호
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• pp.1733-1738
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• 2008

SLC6A18은 neurotransmitter로서 고혈압과 연관성이 보고 되었고, 유전자 내에 총 8개의 minisatellites가 존재함이 밝혀졌다. 본 연구에서 8개 minisatellites 중 가장 높은 heterozygosity를 나타내는 SLC6A18-MS5 영역에 대하여 생물정보학적 방법으로 Transfac software를 이용하여 transcription factor binding site를 분석한 결과, Pax4와 HNF4의 binding site를 발견하였다. HNF4는 당뇨병 대사에 관여하는 것으로 고혈압과의 연관성이 있을 것으로 사료된다. 그러므로 본 연구에서는 SLC6A18-MS5 영역과 고혈압과의 연관성을 조사하기 위하여, 대조군 301명과 고혈압 환자군 184명의 genomic DNA를 이용하여 대립형질의 패턴을 조사하였다. SLC6A18-MS5의 대립형질 분포와 고혈압은 직접적인 영향을 주지 않는 것으로 나타났다. 반면 높은 heterozygosity를 나타내는 SLC6A18-MS5에 친자확인 및 DNA typing 마커로서의 유용성을 알아보기 위해 20가족의 샘플을 이용하여, 감수분열 후 자손에의 분리 형태를 조사한 결과 부모에게서 자손으로 정확히 전달되는 멘델의 법칙에 의해 분리됨을 확인하였다. 또한 SLC6A18 유전자 내의 minisatellites들의 진화적 관계를 조사한 결과, 인간과 원숭이에서만 보존적으로 나타났다. 이러한 결과는 intron영역의 minisatellites 분석이 영장류의 비암호화 영역의 중요한 진화 마커로 사용될 수 있음을 나타내어, 영장류 특이적 진화를 이해하는데 도움이 될 것으로 사료된다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.29-31
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• 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

• Journal of Animal Science and Technology
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• 제51권6호
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• pp.493-502
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• 2009

Glucose is a major source of metabolic fuel and lipid and protein syntheses. Transport of glucose into the cell is regulated by an action of glucose transport.associated transporters, especially solute carriers 2A (Slc2a, protein symbol GLUT). The present study was focused on examination of mRNA expression of various Slc2a isoforms in the epididymis during postnatal development. Total RNAs isolated from different epididymal segments (caput, corpus, and caudal epididymis) were utilized for real-time polymerase chain reaction analyses. Results showed that Slc2a 1, 3, 4, 5, and 8 were expressed in the entire epididymal regions. In addition, the abundance of these Slc2a isoforms' transcripts was different within each epididymal regions. Moreover, the present study showed differential expression of these Slc2a isoforms among different epididymal segments according to postnatal ages. The current study suggests that glucose transport in the epididymis via various Slc2a isoforms would be necessary for maintenance of the epididymal functions.

• 한국수정란이식학회지
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• 제25권1호
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• pp.29-34
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• 2010

난포낭종은 소 번식 장애의 주요 원인 중의 하나이며, 다양한 유전자의 변화는 여러 세포와 조직 기능에 영향을 준다. 이러한 유전자 변화는 낭종성 난소에서도 나타날 수 있다. 이온 및 수송체와 관련된 유전자 변화가 한우의 난포낭종을 유발할 수 있을 것이라는 가설 하에 난포낭종성 난포에서 발현 변화를 보이는 유전자를 찾기 위하여 마이크로어레이 분석을 수행하였다. 마이크로어레이 분석 결과, 난포낭종성 난포에서 FGG와 LRP8이 증가하고, SLC44A4, SLC27A5, ANXA8 및 aquaporin 4는 감소하였다. 반정량적 역전사중합효소 연쇄 반응으로 마이크로어레이 분석 결과를 재확인하였다. 6개의 DEG 중 3개의 DEG(FGG, SLC44A4 및 aquaporin 4)는 마이크로어레이 분석 결과와 동일하게 증가와 감소를 보였다. 마이크로어레이와 역전사중합효소 반응에서 동일한 결과를 보이는 3개의 유전자 중 가장 크게 변화를 보인 섬유소원에 중점을 두고 연구를 수행하였다. 마이크로어레이와 역전사중합효소 연쇄 반응은 난포낭종성 난포에서 섬유소원 유전자 발현을 각각 8.4배와 1.7배 증가시켰다. 그러나 난포 및 과립층세포에서 섬유소원의 단백질 양은 웨스턴 블랏 분석으로 분석한 결과, 정상에 비하여 낭종에서 유의한 차이를 보이지 않았다. 본 연구에서 섬유소원은 유전자와 단백질 발현에 있어 상관관계는 보이지 않았지만 섬유소원 유전자는 정상 조직으로부터 난포낭종을 구별하는데 있어서 중요한 생물표지자가 될 수 있는 가능성을 제시한다.

• Asian-Australasian Journal of Animal Sciences
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• 제31권8호
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• pp.1325-1335
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• 2018

Objective: This study investigated whether spermine supplementation could regulate cell cycle, apoptosis, and amino acid transporter-related genes expression in the thymus and spleen of early weaned piglets. Methods: Eighty female piglets were randomly distributed to receive adequate nutrients supplemented with spermine (0.4 mmol/kg body weight/24 h) or to be provided with restricted nourishment supplemented with normal saline for 7 h or 3, 6, or 9 d in pairs. Results: Regardless of administration time, spermine supplementation significantly up-regulated cyclin A2 gene expression but down-regulated p21 and cyclin D3 mRNA levels in the thymus and spleen and reduced cyclin E2 gene expression in the thymus of piglets (p<0.05). Irrespective of the treatment period, the reduced Bax and caspase-3 gene expressions and improved Bcl-2 mRNA level were observed in the thymus and spleen of spermine-administrated piglets (p<0.05). Regardless of supplementation time, spermine intake significantly enhanced the expressions of amino acid transporter-related genes (SLC1A1, SLC1A5, SLC7A1, SLC7A7, and SLC15A1) in both thymus and spleen, as well as SLC7A9 in the spleen of piglets (p<0.05). In addition, extended spermine administration also markedly promoted cell proliferation, depressed apoptosis and modulated amino acid transport (p<0.05), and such effects were the greatest during prolonged spermine supplementation (6 d) compared to the other time periods (p<0.05). Conclusion: Spermine supplementation may regulate cell cycle during the G1/S phase, suppress apoptosis and modulate amino acid transport. A period of 6 d of spermine supplementation is required to produce the optimal effects on nutritional implications.

• Journal of Animal Science and Technology
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• 제62권5호
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• pp.614-627
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• 2020

During the course of this trial, our team assessed the influence of protease upon the growth performance, the nutrient digestibility, and the expression of growth-related genes and amino acid transporters within the liver, muscle, and small intestines of broilers. During the first step, our team allocated 600 broilers into four dietary treatments for a period of 35 days in order to measure the growth performance and nutrient digestibility of the broilers selected. The separate treatments contained 10 replicates (15 birds per replicate). The treatments were composed of: 1) CON, basal diet; 2) T1, basal diet + 0.03% protease; 3) T2, basal diet + 0.06% protease; and 4) T3, basal diet + 0.09% protease. Next, the broiler chick sample tissue was harvested from the CON and T3 groups in order to conduct gene expression analysis following the feeding trials the broilers underwent. Our team discovered that the broilers fed protease diets possessed increased body weight and an average daily gain, but conversely, had lower feed conversion ratios when their dietary protease levels increased from 0% to 0.09% (p < 0.05). Additionally, significant linear improvements were identified among the nutrient digestibility of dry matter, crude protein, energy, and amino acids within broilers supplied with protease diets when contrasted and compared with broilers supplied with the basal diet (p < 0.05). In addition, the gene expression of the genes IGF1, IGF2, GH, and LEP in the liver, and the genes MYOD1 and MYOG in the breast muscles, was significantly increased after broilers were fed with a protease diet as compared to broilers that subsisted on a basal diet (p < 0.05). Protease supplementation also raised the expression levels within these amino acid transporters: SCL6A19, SLC7A1, SLC7A7, SLC7A2, SLC7A6, SLC7A9, and SLC15A1, located in the small intestine, when compared to the basal diet (p < 0.05). Our results suggest that protease supplementation in their diet improved the growth performance of broilers via an increase in the expression growth-related genes within broiler liver and muscle tissue. In addition, protease supplementation enhanced broiler digestibility via the upregulation of amino acid transporter expression within the small intestine.

• 한국어병학회지
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• 제21권3호
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• pp.167-174
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• 2008

Few studies on parasitic scutica-like ciliates (SLCs) influencing larval growth and survival during the seed production of the Japanese scallop, Patinopecten yessoensis have been performed in spite of relatively high magnitude of their infectious damage to the larvae. In the mass seed production of the scallop, SLCs were never infectious during D-larval stage which lasted 6 to 7 days. Indeed, the infection first occurred in 2 to 4 days after first umbo-staged larvae. A regular selection of active larvae in swimming behavior kept larval SLC infection low throughout the culture compared to unselected control (P<0.05) in which all the larvae alive were contained. Higher infection frequencies of the unselected control resulted in lower larval survivals and wider range of larval size distribution that drove larval attachment rate lower. To the worse, the nursery spats from the higher SLC infection exhibited a retarded growth and elevated occurrence of abnormal scallop.

• 한국가정관리학회:학술대회논문집
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• 한국가정관리학회 2012년도 제51차 공동춘계학술대회
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• pp.388-388
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• 2012