• Journal of Genetic Medicine
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• 제8권2호
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• pp.125-129
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• 2011

저자들은 고도근시, 망막이상, 납작한콧등, 구개열, 하악후퇴, 소하악증, 저신장, 양쪽 손가락의 관절구축증(arthrogryposis)이 있고, 방사선 검사상 불규칙한 대퇴골과 경골의 골단면, 척추골단이형성증이 보이는 Stickler 증후군 환자 1례에서 COL2A1 유전자의 새로운 돌연변이를 국내 최초로 증명하였기에 문헌고찰과 함께 보고하는 바이다.

• The Korean Journal of Physiology and Pharmacology
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• 제13권2호
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• pp.91-97
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• 2009

The tubby mouse is characterized by progressive retinal and cochlear degeneration and late-onset obesity. These phenotypes are caused by a loss-of-function mutation in the tub gene and are shared with several human syndromes, suggesting the importance of tubby protein in central nervous system (CNS) functioning. Although evidence suggests that tubby may act as a transcription factor mediating G-protein coupled receptor (GPCR) signaling, any downstream gene regulated by tubby has yet to be identified. To explore potential target genes of tubby with region-specific transcription patterns in the brain, we performed a microarray analysis using the cerebral cortex and hypothalamus of tubby mice. We also validated the changes of gene expression level observed with the microarray analysis using real-time RT-PCR. We found that expression of erythroid differentiation factor 1 (Erdrl) and caspase 1 (Casp1) increased, while p21-activated kinase 1 (Pak1) and cholecystokinin 2 receptor (Cck2r) expression decreased in the cerebral cortex of tubby mice. In the hypothalamic region, Casp 1 was up-regulated and $\mu$-crystallin (CRYM) was down-regulated. Based on the reported functions of the differentially expressed genes, these individual or grouped genes may account for the phenotype of tubby mice. We discussed how altered expression of genes in tubby mice might be understood as the underlying mechanism behind tubby phenotypes.

• Childhood Kidney Diseases
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• 제23권2호
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• pp.59-66
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• 2019

Background: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH. Methods: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records. Results: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3). Conclusion: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.

• 대한화장품학회지
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• 제28권1호
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• pp.58-70
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• 2002

Retinol에 대한 합성물질과 천연물질의 항산화력을 비교하였다. 수용성 합성 항산화제 tertiary butylhydroquulone(TBHQ)와 수용성 천연 항산화제 $\alpha$-glycosyl rutin($\alpha$-G rutin), licorice, pycnogenol, 지용성 합성 항산화제 butylated hydroxytoluene(BHT)와 지용성 천연 항산화제 $\alpha$-lipoic acid, ferulic acid, natural concentrated tocopherol(no-tocopherol)를 각각 0.0, 0.0l, 0.02, 0.05, 0.l0wt% 사용하여 리포좀에 봉입하였으며, 4$^{\circ}C$, $25^{\circ}C$, 5$0^{\circ}C$에서 8주 동안 retinol의 잔류량 변화를 HPLC로 측정하였다. 사용된 항산화제는 retinol에 대하여 모두 산화억제효과를 나타내었으며, 수용성 항산화제는 licorice>pycnogenol>TBHQ>$\alpha$-G rutin 순으로, 지용성 항산화제는 $\alpha$-lipoic acid>BHT>no-tocopherol>ferulic acid 순으로 나타났다. 또한 $\alpha$-lipolc acid, BHT, licorice, pycnogenol을 흔합하여 retinol에 대한 항산화력 상승효과를 알아보았다. $\alpha$-lipoic acid와 BHT를 혼합하여 사용하였을 때 retinol에 대한 항산화력이 가장 좋게 나타났다.

• 대한유전성대사질환학회지
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• 제18권3호
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• pp.95-98
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• 2018

미토콘드리아 질환은 단일 장기에서부터 여러 장기에 걸쳐 침범할 수 있다는 임상 증상의 광범위한 이질성이 특징이다. 안검하수, 색소 망막 퇴화, 외안근 마미, 시신경 위축 등과 같은 다양한 안구 증상이 미토콘드리아 질환에서 함께 나타날 수 있지만, 진행성 양안 백내장은 미토콘드리아 질환의 안과적 증상에서 매우 드물다. 저자들은 미토콘드리아 호흡 연쇄 복합체 결핍 환자에서 흔치 않은 안구 발현 현상인 진행성 양안 백내장 침범 사례를 경험하였기에 보고하는 바이다.

• Parasites, Hosts and Diseases
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• 제57권2호
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• pp.83-92
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• 2019

Based on the reactive oxygen species (ROS) regulatory properties of diphenyleneiodonium (DPI), we investigated the effects of DPI on host-infected T. gondii proliferation and determined specific concentration that inhibit the intracellular parasite growth but without severe toxic effect on human retinal pigment epithelial (ARPE-19) cells. As a result, it is observed that host superoxide, mitochondria superoxide and $H_2O_2$ levels can be increased by DPI, significantly, followed by suppression of T. gondii infection and proliferation. The involvement of ROS in anti-parasitic effect of DPI was confirmed by finding that DPI effect on T. gondii can be reversed by ROS scavengers, N-acetyl-L-cysteine and ascorbic acid. These results suggest that, in ARPE-19 cell, DPI can enhance host ROS generation to prevent T. gondii growth. Our study showed DPI is capable of suppressing T. gondii growth in host cells while minimizing the un-favorite side-effect to host cell. These results imply that DPI as a promising candidate material for novel drug development that can ameliorate toxoplasmosis based on ROS regulation.

• 대한두개안면성형외과학회지
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• 제23권4호
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• pp.183-186
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• 2022

Plastic surgery around the eyes is usually performed under local anesthesia, using a mixture of lidocaine and epinephrine. Blindness is a rare but devastating complication after the injection of local anesthesia in this region. Most cases reported to date have been caused by occlusion of the ophthalmic artery or central retinal artery. In this case report, however, we present a highly unusual case of blindness caused by corneal edema after a local anesthetic injection. A patient visited the emergency room with a laceration on the eyebrow, and local anesthesia was injected before suturing. Immediately after the injection, severe corneal edema developed, making it impossible to observe the structures in the anterior chamber in detail or check the light reflex and visual acuity of the naked eye. An antibiotic (moxifloxacin hydrochloride) and high-concentration steroid eyedrops were promptly applied. High-concentration steroids were also administered orally. On day 13 post-injury, the visual acuity of the naked eye improved to 1.0, and no recurrence of corneal lesions was observed. Although the cause of corneal edema after the local injection could not be conclusively identified, we hope that this report will help raise clinicians' awareness of this complication and appropriate treatment methods.

• 한국동물학회지
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• 제15권2호
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• pp.71-85
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• 1972

닭(Gallus domesticus B.)의 視細胞 外절과 內절의 移行部에는 他 脊椎動物에서 흔히 觀察되는 纖維가 極히 적었는데 이것은 鳥類視細胞의 特徵이며 內절에 많은 미토콘드리아가 存在함은 모든 脊椎動物에서와 같은 現象이지만 鳥類에서는 內部 절의 構造가 多樣하게 變化되어 나타나고 있다. 視細胞核 部位에 存在하는 外境界膜의 屈曲이 심한 것도 닭에서뿐 아니라 참새나 비둘기 等 鳥類에서 보이고 있는 特徵的인 構造이지만 外절의 層板 構造라든가 色素上皮細胞, 外顆粒層과의 連結部位등 一般的인 視細胞의 構造들은 거의 모든 脊椎動物에서 비슷하게 나타나고 있음을 알 수 있었다. 一般的인 電顯方法으로 實驗하였으나 보통 쓰이고 있는 phosphate buffer 代身 cacodylate buffer를 사용한 것이 다를 뿐이다.

• Korean Chemical Engineering Research
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• 제62권1호
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• pp.118-124
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• 2024

신경망은 심전도 신호, 망막 영상, 지진파 등 잡음이 포함된 자료의 전처리 작업에 활용되고 있다. 그러나, 잡음의 전처리는 전산시간 증가, 원본 신호의 왜곡등의 문제점을 내포하고 있다. 본 연구에서는 잡음의 전처리 없이 측정 자료를 분석할 수 있는 신경망 구조를 연구하였다. 신경망의 학습 자료로써 잡음이 포함된 DNA 용액의 동역학적 거동을 선정하여, 해당 자료로부터 DNA 용액의 조성비를 예측하고자 하였다. DNA의 동역학 자료에 인위적으로 백색 잡음을 추가하여, 신경망의 예측에 대한 잡음의 영향을 알아보았다. 결과적으로, 잡음의 전처리 없이 O(1)의 신호 대 잡음비 자료로부터 O(0.01)의 오차로 용액의 조성비를 예측할 수 있었다. 이러한 연구 결과는 측정 잡음에 민감하게 영향 받을 수 있는 극미량의 유전병 또는 암세포와 관련된 DNA를 분석을 위한 핵심 인공지능 기술로 활용할 수 있다.

• IMMUNE NETWORK
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• 제20권3호
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• pp.26.1-26.9
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• 2020

Cereblon (CRBN), a negative modulator of AMP-activated protein kinase (AMPK), is highly expressed in the retina. We confirmed the expression of CRBN in ARPE-19 human retinal cells by Western blotting. We also demonstrated that CRBN knock-down (KD) could effectively downregulate IL-6 and MCP-1 protein and gene expression in LPS-stimulated ARPE-19 cells. Additionally, CRBN KD increased the phosphorylation of AMPK/acetylcoenzyme A carboxylase (ACC) and the expression of heme oxygenase-1 (HO-1) in ARPE-19 cells. Furthermore, CRBN KD significantly reduced LPS-induced nuclear translocation of NF-κB p65 and activation of NF-κB promoter activity. However, these processes could be inactivated by compound C (inhibitor of AMPK) and zinc protoporphyrin-1 (ZnPP-1; inhibitor of HO-1). In conclusion, compound C and ZnPP-1 can rescue LPS-induced levels of proinflammatory cytokines (IL-6 and MCP-1) in CRBN KD ARPE-19 cells. Our data demonstrate that CRBN deficiency negatively regulates proinflammatory cytokines via the activation of AMPK/HO-1 in the retina.