• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.27-32
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• 2011

최근 유전공학의 발달로 리소좀 축적 질환에서 효소 치료제가 개발되어 실제 치료에 사용되고 있다. 현재 효소 보충 치료가 가능한 리소좀 축적 질환에는 고셔병(Gaucher disease), 파브리병(Fabry disease), 폼페병(Pompe disease), 뮤코다당체침착병(Mucopolysaccharidosis, MPS) 1형, 2형, 6형이 있으며 비교적 안전하면서 증상 완화에도 효과적으로 보인다. 그러나 이미 진행이 된 증상에 대해서는 비가역적이므로 조기에 진단을 하여 치료를 시작하는 것이 중요하다. 효소 보충 치료의 장기간에 걸친 치료 효과에 대해서 지속적인 평가가 필요하며 무엇보다 뼈와 중추신경계에 대한 효과는 제한적이므로 이에 대한 새로운 치료법의 개발이 필요하다.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.5-13
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• 2012

I-cell disease (mucolipidosis type II; MIM 252500) and pseudo-Hurler polydystrophy (mucolipidosis type III; MIM 252600) are disorders caused by abnormal lysosomal transport in cells. The presence of numerous inclusion bodies in the cytoplasm of fibroblasts, a lack of mucopolysacchariduria, increased lysosomal enzyme activity in serum, and decreased GlcNAc-phosphotransferase activity are hallmark. Here, we attempted to investigate phenotypical and biochemical characteristics of the knockoutmouse of GlcNAc-phosphotransferase ${\alpha}/{\beta}$ subunits; in addition, we also attempted to determine whether the lysosome enriched fraction derived from placenta can be beneficial to phenotype and biochemistry of the knockout mouse.We found that the knockout mouse failed to thrive and had low bone density, as is the case in human. In addition, skin fibroblasts from the animal had the same biochemical characteristics, including increased lysosomal enzyme activity in the culture media, in contrast to the relatively low enzyme activity within the cells. Intravenous injection of the lysosome rich fraction derived from placenta into the tail vein of the animal resulted in a gain of weight, while saline injected animals didn't.In conclusion, our study demonstrated the phenotypical and biochemical similarities of the knockout mouse to a mucolipidosis type II patient and showed the therapeutic potential of the lysosome enriched fraction. We admit that a larger scale animal study will be needed; however, the disease model and the therapeutic potential of the lysosome enriched fraction will highlight the hope for a novel treatment approach to mucopolipidosis type II, for which no therapeutic modality is available.

• Journal of Sericultural and Entomological Science
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• v.13 no.2
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• pp.99-107
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• 1971

In the suboesophageal ganglion of Bombyx mori, the diapause regulator producing cells which may give an information to the diapause factor cells were found by means of electron microscopy. The diapause regulator producing cells had larger granules (2000 to 5000 A$^{\circ}$ in diameter) than did the diapause factor cells which were partially surrounded by the formers. Highly electron-dense material of lysosome in the diapause regulator producing cells was observed in the diapause-egg producer but such lysosomes were not in the non-diapause egg-producer. It was found that many cytoplasmic granules fuse with lysosome, and smaller granules come out of lysosomes. Some implications of the diapause factor cell and the diapause regulator producing cell were discussed.

• Applied Microscopy
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• v.30 no.2
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• pp.165-172
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• 2000

To investigate the defensive effect of green tea against the lead toxicity, Sprague-Dewley rats (150 gm) were divided into 5 groups; the control group, the group treated with lead for 4 weeks (Group A-1), the group treated with lead and green tea for 4 weeks (Group A-2), the group treated with lead for 8 weeks (Group B-1), and the group treated with lead and green tea for 8 weeks (Group B-2). The lead acetate (500 ppm) was injected two times for one week into the abdomen and green tea solution (3 g/100 ml distilled water) offered freely. In the liver cell, The cristae of mitochondria were enlarged, the rough endoplasmic reticulum (rER) extended and many lysosome observed on the Group A- 1. The cristae of mitochondria were enlarged and many lysosome observed, but nucleus was normal on the Croup A-2. All of observed parts on the Group B-1 deeply wounded by lead than the group A-1. In the Group B-2, the mitochondria and rER were increased in number than the Group B-1 and the nucleus was observed normally.

• Korean journal of applied entomology
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• v.55 no.3
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• pp.215-221
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• 2016

In this study, we used electron microscopic analysis to characterize the hemocytes in the last larva of Protaetia brevitarsis seulensis (Colbe) (Cetoniidae, Coleoptera). Granulocytes (GR), plasmatocytes (PL), oenocytoids (OE), spherulocytes (SP), prohemocytes (PR) and adipohemocytes (AD) were classified based on their size and ultrastructural differences in the circulating hemocytes. Many dark granules (<$1{\mu}m$ in diameter) in the GR's cytoplasm were observed and well-developed mitochondria, endoplasmic reticulum (ER), nucleus, and Golgi complex were also seen. After microorganisms infected, the GRs were morphologically activated and phagocytosed them. Especially, dark granules (lysosomes) were fused themselves and these bigger granules finally agglomerate together with microorganisms. Other hemocytes seem to have no immune functions.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.23-24
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• 2002

저자들은 조악한 얼굴과 관절의 구축 등 Hurler 증후군과 유사한 임상 증상을 보이면서 혈장에서 리소좀 효소 활성도의 증가를 보였던 Mucolipidosis 2례를 경험하였기에 보고하는 바이다.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.85-91
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• 2017

Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.65-75
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• 2005

Purpose: To understand genetic differences and similarities between mucolipidosis and control. Methods: Using the fibroblast of the mucolipidosis II and control, forward and reverse subtracted libraries were constructed. Among these clones, we investigated mutations in the GNPTA (MGC4170) gene, which codes for the ${\alpha}/{\beta}$ subunits of phosphotransferase, and in the GNPTAG gene, which codes for the ${\gamma}$ subunits in 5 Korean patients with mucolipidosis type II or IIIA. Result: Several differentially expressed cDNAs were cloned and their sequences were determined. Mutation analysis of the interested gene, GNPTA was performed and we identified 7 mutations in the GNPTA gene, but none in the GNPTAG gene. The mutations in type II patients included p.Q104X(c.310C>T), p.R1189X(c.3565C>T), p.S1058X(c.3173C>G), p.W894X(c.2681G>A) and p.H1158fsX15(c.3474_3475delTA), all of which are non-sense or frame shift mutations. However, a splicing site mutation, IVS13+1G>A (c.2715+1G>A) was detected along with a non-sense or a frame shift mutation (p.R1189X or p.E858fsX3(c.2574_2575delGA)) in two mucolipidosis type IIIA patients. Conclusion: This report shows that mutations in the GNPTA gene coding for the ${\alpha}{\beta}$subunits of phosphotransferase, and not mutations in the GNPTAG gene, account for most of mutations found in Korean patients with mucolipidosis type II or IIIA.

• Applied Microscopy
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• v.30 no.3
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• pp.273-283
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• 2000

To investigate the defensive effect of green tea against the lead toxicity, Sprague-Dewley rats (150 gm) were divided into 5 groups; the control group (A), the group treated with lead for 4 weeks (Group B-1), the group treated with lead and green tea for 4 weeks (Group B-2), the group treated with lead for 8 weeks (Group C-1), and the group treated with lead and green tea for 8 weeks (Group C-2). The lead acetate (500 ppm) was injected two times for one week into the abdomen and green tea solution (3 g/100 ml distilled water) offered freely. The results of histological and biocheical study are as follows; 1. Blood Urea Nitrogen (BUN) were increased in all the tested groups. The Group B-1 was more increased than the Group B-2, and the Group C-1 more than the Group C-2. The values of Alkaline phosphatase (ALP) were also decreased in all the tested groups, as such the former phenomenon. 2 In the Group B-1, some microvilli, mitochondria and rER were modificated on epithelial cell of proximal renal tubules. The cristae of mitochondria were enlarged, microvilli and nucleus were observed normally on the Group B-2. The number of Microvilli, mitochodria and rER were decreased, many lysosomes and irregular nucleus observed in the Group C-1. In the Group C-2, microvilli were modificated slightly and other organelles were observed similary with the Group B-2.

• Proceedings of the Korean Society of Fisheries Technology Conference
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• 2003.05a
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• pp.389-390
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• 2003

리소즘은 가수분해효소와 같은 각종 효소를 저장하고 있고, 이러한 효소는 지방, 지질 및 단백질에 특이적으로 반응하여 세포내로 들어오는 이들 물질을 분해하는 기능을 담당한다. 또한 리소좀은 여러 가지 Xenobiotics에도 반응하는 것으로 알려지고 있다(Lowe et al., 1995, Shepard and Bradley, 2000), 리소즘막의 손상은 결국 Xenobiotic의 세포내 출입의 조절능을 상실하게 되고, 나아가 ATP-dependent proton pump의 손상을 일으키게 된다(Lowe et al., 1992). (중략)