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Recent activity of mouse metabolic phenotyping service at Korea Mouse Phenotyping Center (KMPC)
Hye Sun Go,Ji Min Choi,Seul Gi Yoon,Su In Jang,Soo Jin Son,Da In On,Hyun A Noh,Mi Young Kim,Il Yong Kim,Je Kyung Seong 한국실험동물학회 2021 한국실험동물학회 학술발표대회 논문집 Vol.2021 No.7
To understand the function of individual genes is also a key information in developing new treatment techniques. Even though a couple of genetically engineered mouse (GEM) models has been generated, still precising determination of mouse phenotype is not easy. Precising mouse phenotyping is one of the effective way leading to discovery gene function. International Mouse Phenotyping Consortium (IMPC) has established mega database of mouse phenotyping data from different institutes across the world based on generalized platform. However more precised mouse phenotyping is still needed. In order to meet the need for more detailed phenoyping in mouse, Korea Mouse Phenotyping Center (KMPC), nation-wide program for mouse production and phenotyping in Korea has been establishing several pipelines for disease-specific mouse phenotyping to support the mouse research. Here we introduce mouse metabolic and exercise phenotyping services, as well as the other services of mouse research such as providing genetically engineered mouse information, producing selling genetically engineered mice, and managing resource quality so that researchers can easily utilize the research infrastructure. Metabolic characterization in mouse is one of key factors for understanding the pathogenesis of obesity, type 2 diabetes and insulin resistance. KMPC has been providing mouse metabolic phenotyping including high fat diet, exercise and cold challenges. Multiple parameter including energy expenditure (EE), O2/CO2 consumption (RER), heat generation and activity has been provided with histology service and body composition. Also temperature can be measured during metabolic chamber with telemetric system. Here we summarized mouse metabolic phenotyping services at KMPC.
Go, Min-Jin,Hwang, Joo-Yeon,Kim, Dong-Joon,Lee, Hye-Ja,Jang, Han-Byul,Park, Kyung-Hee,Song, Ji-Hyun,Lee, Jong-Young Korea Genome Organization 2012 Genomics & informatics Vol.10 No.2
Dyslipidemia, mainly characterized by high triglyceride (TG) and low high-density lipoprotein cholesterol (HDL-C) levels, is an important etiological factor in the development of cardiovascular disease (CVD). Considering the relationship between childhood obesity and CVD risk, it would be worthwhile to evaluate whether previously identified lipid-related variants in adult subjects are associated with lipid variations in a childhood obesity study (n = 482). In an association analysis for 16 genome-wide association study (GWAS)-based candidate loci, we confirmed significant associations of a genetic predisposition to lipoprotein concentrations in a childhood obesity study. Having two loci (rs10503669 at LPL and rs16940212 at LIPC) that showed the strongest association with blood levels of TG and HDL-C, we calculated a genetic risk score (GRS), representing the sum of the risk alleles. It has been observed that increasing GRS is significantly associated with decreased HDL-C (effect size, $-1.13{\pm}0.07$) compared to single nucleotide polymorphism combinations without two risk variants. In addition, a positive correlation was observed between allelic dosage score and risk allele (rs10503669 at LPL) on high TG levels (effect size, $10.89{\pm}0.84$). These two loci yielded consistent associations in our previous meta-analysis. Taken together, our findings demonstrate that the genetic architecture of circulating lipid levels (TG and HDL-C) overlap to a large extent in childhood as well as in adulthood. Post-GWAS functional characterization of these variants is further required to elucidate their pathophysiological roles and biological mechanisms.
Jin, Hyun-Seok,Kim, Jeonghyun,Lee, Soo-Jin,Kim, Kyunga,Go, Min Jin,Lee, Jong-Young,Lee, Hye-Ja,Song, Jihyun,Jeon, Byeong Tak,Roh, Gu Seob,Kim, Sung-Jun,Kim, Bo-Young,Hong, Kyung-Won,Yoo, Young-Hyun,Oh Elsevier 2014 Molecular and cellular endocrinology Vol.382 No.1
<P><B>Abstract</B></P> <P>Several association studies have implicated the <I>PARK2</I> gene that encodes parkin – the key molecule orchestrating the mitochondrial quality control system – as a candidate susceptibility gene for diabetes. A total of 7551 unrelated Korean KARE cohort subjects were analyzed to investigate the association between the <I>PARK2</I> single nucleotide polymorphism (SNP) and quantitative glycemic traits. Two SNPs, rs10455889 and rs9365294, were significantly associated with fasting plasma glucose level (<I>p</I> =∼1.2×10<SUP>−4</SUP>) and insulin secretion indices (<I>p</I> =∼7.4×10<SUP>−5</SUP>) in male KARE subjects. Parkin was expressed predominantly in the rat pancreatic islets. Downregulation of the <I>Park2</I> gene in rat INS-1 β-cells resulted in a significant decrease in the glucose-stimulated insulin secretion, intracellular insulin gene expression, and intracellular ATP level. The <I>Park2</I>-depleted β-cells also exhibited increased mitochondrial fragmentation and ROS production and decreased mitochondrial membrane potential. Both population-based statistical evaluation and experimental evidence demonstrated a fundamental role of the <I>PARK2</I> gene in the maintenance of β-cell function.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Two <I>PARK2</I> SNPs are associated with fasting blood glucose and insulin secretion. </LI> <LI> The <I>Park2</I>-depleted rat β-cells exhibit decreased insulin production and secretion. </LI> <LI> Knockdown of <I>Park2</I> gene by RNAi causes mitochondrial alterations in rat INS-1 β-cells. </LI> <LI> <I>PARK2</I> gene plays an important role in the maintenance of pancreatic β-cell function. </LI> </UL> </P>
Synthesis and Biological Activities of Myomodulin E and its Analogs
Hye-Jin Go(고혜진),Jung-Kil Seo(서정길),Hae Jeom Seo(서혜점),Min Jeong Lee(이민정),Tae Hyun Park(박태현),Gun Do Kim(김군도),Nam Gyu Park(박남규) 한국생명과학회 2012 생명과학회지 Vol.22 No.4
군소인 Aplysia kurodai의 중추신경절로부터 발견된 myomodulin A (MMA, PMSMLRLamide)와 myomodulin E (MME, GLQMLRLamide)는 Mytilus edulis의 anterior byssus retractor muscle (ABRM)을 활성측정시스템으로 사용하여 정제되었다. . 정제된 MMA와 MME는 연체동물에서 발견된 myomodulin 계열의 펩타이드와 동일한 일차구조를 지닌다. MME의 구조와 활성간의 상관관계를 알아보기 위해서 MME, 유도체 및 다른 신경성 펩타이드들을 합성하였다. MME의 유도체인 Des[Gly¹]-MME, Des[Gly¹,Leu²]-MME 및 Des[Gly¹, Leu²,Gln³]-MME의 일차구조는 각각 LQMLRLamide, QMLRLamide 및 MLRLamide이다. 합성 물질들을 사용하여 ABRM에 대한 phasic -contraction을 측정하였다. MME는 1×10<SUP>-9</SUP> M 또는 더 높은 농도에서 ABRM의 phasic contraction을 저해하였다. 또한 MME는 1×10<SUP>-8</SUP> M에서 catch-tension에 대해 이완활성을 나타내었다. 합성 펩타이드들을 사용하여 Africa giant snail, Achatina fulica의 소낭과 penial retractor muscle에 대해서도 활성을 측정하였다. MME와 유도체들은 소낭에 대해서는 수축반응을 보였지만, penial retractor muscle에 대해서는 이완 활성을 나타내었다. 이러한 결과들은 MME와 그 유도체들은 연체동물의 다양한 조직에 대해 조절 효과를 가지고 있다는 것을 의미한다. 본 연구는 생체 내에서 발생하는 신경 및 circuit의 변화를 조절하는 작용 연구에 대한 기본적인 자료가 될 것이다. Previous work has characterized myomodulin A (MMA, PMSMLRLamide) and myomodulin E (MME, GLQMLRLamide) purified from the central nervous systems of the sea hare, Aplysia Kurodai, using the anterior byssus retractor muscle (ABRM) of the mussel, Mytilus edulis. The amino acid sequences of MMA and MME were the same as those of the myomodulin family peptide found in other mollusks. In this study, we synthesized MME, its derivatives, and other neuropeptides to investigate the relationship between the structure and biological activity of MME. The primary structures of MME’s derivatives, Des[Gly¹]-MME, Des[Gly¹,Leu²]-MME, and Des[Gly¹,Leu²,Gln³]-MME, were LQMLRLamide, QMLRLamide, and MLRLamide, respectively. MMA and synthetic peptides were tested on ABRM in M. edulis as well as muscle preparations in Achatina fulica. MME displayed an inhibitory effect on phasic contraction of the ABRM at 1×10<SUP>-9</SUP> M or higher. MME also had a relaxing effect on the catch-tension of AMRM at 1×10<SUP>-8</SUP> M. Both MMA and its analogs stimulated a contractile response on the crop and relaxed the catch-relaxing response on the penial retractor muscle of A. fulica. These results suggest that MME and its analogs have modulatory effects on various muscles of mollusks. This study has also laid the groundwork for future neural and circuit modulation studies during animal behavioral changes.
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo,Ja Hye Kim,Ja Hyang Cho,Gu Hwan Kim,Eul-Ju Seo,Beom Hee Lee,Jin Ho Choi,Han-Wook Yoo 대한소아청소년과학회 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.1
Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.