• Environmental Analysis Health and Toxicology
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• v.18 no.1
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• pp.27-32
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• 2003

고혈압은 다양한 유전적 요인과 환경적 요인이 상호작용하는 다인자성 질환으로 알려져 있으며, 최근의 연구에 의하면 사립체 DNA에 존재하는 유전적 다형성이 고혈압과 유의한 관련성을 나타낸다는 보고가 있다. 이에 본 연구에서는 한국인 집단을 대상으로 하여 사립체 DNA의 5178번째 위치의 염기서열에 존재하는 A/C 다형성이 고혈압과 관련성을 나타내는 지를 분석하였다. 환자-대조군 연구를 수행한 결과, 사립체 DNA의 5178번째 위치에 존재하는 다형성의 대립 유전자 빈도는 한국인에서 고혈압군과 정상 혈압군 사이에 유의한 차이를 나타내지 않았다. 따라서, 이 다형성은 적어도 한국인에 대해서는 고혈압에 유의하게 영향을 미치는 유전적 소인은 아닌 것으로 사료된다.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.191-194
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• 2014

Mitochondrial myopathy results from a primary dysfunction of the respiratory chain and is frequently accompanied with endocrine manifestations. Among the endocrine manifestations of mitochondrial disease, diabetes mellitus is relatively common. Diabetes mellitus in the mitochondrial myopathy is usually insulin dependent due to the defect in insulin secretion resulted from mitochondrial dysfunction. But it is seldom manifested as diabetes ketoacidosis and doesn't usually have an auto-antibody. We report a patient with mitochondrial myopathy who was diagnosed as having diabetes mellitus by presenting as diabetes ketoacidosis and had both of the auto-glutamic acid decarboxylase (GAD) antibody and anti-insulin auto-antibody.

• 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.

• Journal of Yeungnam Medical Science
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• v.16 no.1
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• pp.114-118
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• 1999

Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy. we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.471-475
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• 2009

Purpose : Mitochondrial disorders are a clinical entity characterized by diverse symptoms and signs of involvement of various systems. Furthermore, the disorders are known to show ophthalmologic manifestations as well as neurological findings. Visually evoked potential is a sensitive measure to check the integrity of the visual pathway. In this study, we have investigated the value of visually evoked potential in mitochondrial disorders with respiratory chain defects. Methods : Nineteen patients diagnosed with mitochondrial respiratory chain complex I defect as confirmed by spectrophotometric enzyme assay in muscle samples were enrolled for this study. The patients underwent a visually evoked potential study. We classified the results into four groups and compared these with clinical ophthalmologic findings. Results : Among the 19 patients, 14 showed abnormal visually evoked potential findings. Seven patients showed abnormal clinical ophthalmologic findings. All patients with abnormal ophthalmologic findings showed abnormal visually evoked potential findings. Among the 12 patients with normal ophthalmologic findings, seven showed abnormal results in visually evoked potential. Conclusion : Visually evoked potential study could be used as an effective screening tool for mitochondrial disorders to detect ophthalmologic and neurological abnormalities.

• Investigative Magnetic Resonance Imaging
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• v.2 no.1
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• pp.89-95
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• 1998

Purpose : To investigate the phosphorus metabolic abnormalities in skeletal muscle of patients with mitochondrial myopathy using in vivo $^{31}P$ magnetic resonance spectroscopy(MRS). Materials and Methods : Patients with mitochondrial myopathy(N=10) and normal control subjects (N=10) participated. All in vivo $^{31}P$ MRS examinations were performed on 1.5T whole-body MRI/MRS system by using an image selected in vivo spectroscopy (ISIS) pulse sequence that provided a $4{\times}4{\times}4{\;}cm^{3}$ volume of interest (VOI) in the right thigh muscle tissue. Peak areas for each phophorus methabolite were measured using a Marquart algorithm. Results : The specific features in patients with mitochondrial myopathy were a significant increase of Pi/PCr ratio (p=0.003) and a significant decrease of ATP/PCr ratio (p=0.004) as compared with normal controls. In particular, the ${\beta}-ATP/PCr$ ratio between controls and patients with mitochondrial myopathy was predominantly altered. Conclusions : In vivo $^{31}P$ MRS may be a useful modality in the clinical evaluation of patients with mitochondrial myopathy based on ATP/PCr and Pi/PCr ratios in skeletal muscle tissue and provides a valuable information in further understanding disorders of muscle metabolism.

• Journal of Life Science
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• v.8 no.4
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• pp.449-456
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• 1998

Using morphometric technique, the present study was made of the kidney of rabbit embryo in the 13 days of the gestation. Their section areas of the renal tubules and the glomerular cells were compared with the those of adult rabbit, 1. In the developing renal tubule, the tubular section areas were larger than that of the adult, but the nuclear section areas of tubular calls were smaller than the adult. The microvilli of their cell surface were poorly developed, and their cytoplasm contained well developed mitochondria with euchromatic nucleus. 2. In the developing glomeruli. the nuclear section area of the cells of the parietal layer, the podocytes, and the endothelial cells were similar size, but their nuclei were larger than those of the adult. The cytopalsm of the podocytes contained well-developed rough endoplasmic reticulum, Golgi apparatus, and round mitochondria.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.72-88
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• 2006

• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.99-102
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• 2011

• The Journal of the Korea Contents Association
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• v.10 no.7
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• pp.297-304
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• 2010

As Small Intestine Absorptive Epithelium Cells are surrounded by mucus polysaccharide and lymphocytes and mitochondria, they are sensitive to radiation energy. Damaged cells lead to a deficiency of nutrients and the imbalance of electrolyte metabolism, which in turn can becomes a major cause of an intestine tract death. This research observed ultra structures after injecting propolis into the abdominal cavity in order to reveal the radiation damage mechanism and radioprotection effect of intestine absorptive epithelium cells. The result of this research's observation found that stenosis occurred in the small intestine in some tissues 20 days after 5Gy irradiation, their surface turned black, and their elasticity dropped. Through observation with an optical microscope, it was found that the size of the goblet cells decreased, while the paneth granulate cells atrophied and were vacuolated. Observation with an transmission electron microscope(TEM) revealed that while microvill and lysosome were normally observed in jejunum tissues, mitochondria membrane was damaged and uneven surfaces were formed on lymphocytes. The membrane of absorptive epithelium cells hypertrophied in tissues of the ileum, and vacuole was observed. However, the observation after injecting propolis into the abdominal cavity found that mitochondria damage dropped dramatically, and radioprotection effects were to some extent confirmed, considering that glycocalyx of villi was clear, and M cells could be observed.