• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.441-445
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• 1999

Objective: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. Material and Method: The blood sample of habitual aborter with high fasting homocysteine level was tested by PCR - RFLP method. Results: The patient was found to be a homozygosity for MTHFR gene mutation that was confirmed by the finding which is consistent with the mutation at the nucleotide 677 C to T, corresponding to Ala to Val. Conclusions: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the MTHFR mutation should be examined in the workup of recurrent spontaneous abortion showing hyperhomocysteinemia.

• Tuberculosis and Respiratory Diseases
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• 제62권3호
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• pp.211-216
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• 2007

저자들은 평소 건강하게 지내던62세 남자 환자에게서 발생한 우하지 심부정맥혈전증과 폐색전증의 원인으로 과호모시스테인혈증이 독립적인 위험인자로 작용한 것으로 생각되는 1예를 경험하였기에 문헌고찰과 함께 보고한다.

• Tuberculosis and Respiratory Diseases
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• 제47권2호
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• pp.239-246
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• 1999

저자등은 우하지 동통 및 객혈을 주소로 내원하여 우하지 심부정맥혈전증, 폐색전증 및 뇌정맥혈전증으로 환자에서 과호모시틴혈증이 다발성 혈전증의 원인이었던 1예를 경험 하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Preventive Medicine and Public Health
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• 제42권5호
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• pp.337-342
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• 2009

Background : Many previous studies have shown that elevated homocysteine in the serum is a well known risk factor for cardiovascular disease and this is associated with other risk factors for cardiovascular disease, but any Korean data on this is limited. Objectives : This study aimed to calculate the prevalence of hyperhomocysteinemia and to analyze the relation between elevated homocysteine and the lifestyle factors of Korean adults. Methods : We conducted a cross-sectional survey that included 650 men and 743 women (age range, 20 to 79 years) who were residents of Gwangju City in Gyeonggi-do. These subjects participated in the health interview and examination survey from November to December 2005. The total homocysteine, total cholesterol, HDL-cholesterol, LDL-cholesterol, and triglyceride in the serum were measured. All the participants had their body composition measured such as height and weight, and we obtained health-related behavioral information through the self-entry questionnaire. Results : Very right-handed skewed distributions of homocysteine were shown in men and women. The prevalence of hyperhomocysteinemia was 22.6% in men and 13.7% in women in Gwangju city. On the multiple logistic regression analysis, hyperhomocysteinemia was associated with age (OR=1.02, 95% CI=1.01-1.04), male gender (OR=1.60, 95% CI=1.02-2.52), severe general physical activity (OR=0.32, 95% CI=0.15-0.69) and nutrient consumption (OR=0.49, 95% CI=0.31-0.76). Conclusions : There is a great prevalence of hyperhomocysteinemia in adults of Gwangju City, Korea and it was associated with both genetic factors and lifestyle risk factors. This study can suggest that comprehensive lifestyle modification is needed in order to diminish the prevalence of hyperhomocysteinemia and to prevent CVD.

• Journal of Nutrition and Health
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• 제36권8호
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• pp.811-818
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• 2003

We investigated the effects of dietary folate supplementation on plasma homocysteine, vitamin B$_{12}$ and hepatic levels of S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH) in diet-induced hyperhomocysteinemic rats. All animals were fed 0.3% homocysteine diet for 2 weeks, then they were placed either on a 0.3% homocystine or no homocystine with or without 8 mg/kg folate diet for 8 weeks. Homocystine diet induced hyperhomocysteinemia up to 3.5-fold at 10 weeks (28.0 $\pm$ 4.8 $\mu$mol/l vs. 7.9 $\pm$ 0.3 $\mu$mol/l). Dietary folate supplementation caused a significant decrease in plasma homocysteine levels which had been increased by a homocystine-diet. Also, dietary folate supplementation made them return to control levels at 4 wk when the diet was free of homocystine. Plasma folate levels were markedly decreased with homocystine diet with no folate supplementation. Plasma vitamin B$_{12}$ did not differ between groups. Dietary homocystine increased hepatic levels of SAM in folate supplementation group at 10 weeks (p<0.05). Dietary folate supplementation increased hepatic levels of SAM/SAH ratios in homocystine group (p<0.05). In conclusion, dietary folate supplementation can effectively ameliorate the detrimental effects of hyperhomocysteinemia.mia.

• The Korean Journal of Physiology and Pharmacology
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• 제18권3호
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• pp.201-209
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• 2014

The present study was designed to investigate the efficacy of selective $ET_A$ receptor antagonist, ambrisentan on hyperhomocysteinemia-induced experimental vascular dementia. L-methionine was administered for 8 weeks to induce hyperhomocysteinemia and associated vascular dementia in male rats. Ambrisentan was administered to L-methionine-treated effect rats for 4 weeks (starting from $5^{th}$ to $8^{th}$ week of L-methionine treatment). On $52^{nd}$ day onward, the animals were exposed to the Morris water maze (MWM) for testing their learning and memory abilities. Vascular endothelial function, serum nitrite/nitrate levels, brain thiobarbituric acid reactive species (TBARS), brain reduced glutathione (GSH) levels, and brain acetylcholinesterase (AChE) activity were also measured. L-methionine-treated animals showed significant learning and memory impairment, endothelial dysfunction, decrease in/serum nitrite/nitrate and brain GSH levels along with an increase in brain TBARS levels and AChE activity. Ambrisentan significantly improved hyperhomocysteinemia-induced impairment of learning, memory, endothelial dysfunction, and changes in various biochemical parameters. These effects were comparable to that of donepezil serving as positive control. It is concluded that ambrisentan, a selective $ET_A$ receptor antagonist may be considered as a potential pharmacological agent for the management of hyperhomocysteinemia-induced vascular dementia.

• Journal of Nutrition and Health
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• 제33권3호
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• pp.250-256
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• 2000

Hyperhomocysteinemia has been shown to be associated with increased risks for macrovascular angiopathy. The present study was conducted to document the relationship between plasma homocysteine levels and the presence of macrovascular angiopath in patients with Type II diabetes mellitus. Plasma total homocysteine was determined by a HPLC-fluorescence detection method in a total of 238 subjects, 127 diabetic patients and 111 control. Dietary information including folate intake was assessed by a 24-hour recall in a total 113 subjects, 70 diabetic patients and 43 control. Folate intake was significantly lower inn patients with diabetes mellitus than that in the control. The lowered folate intake in the diabetic patients was mainly due to reduced intakes of fruits and vegetables. The average plasma homocysteine level of patients with MA was 14.2$\mu$㏖/L, which was significantly higher than that of either the patients without MA(11.4$\mu$㏖/L) or the control(11.5$\mu$㏖/L). Twenty five percent of the diabetic patients were positively correlated with age (r=0.20), body weight (r=0.28), body mass index (r=0.28), body mass index (r=0.18), diastolic blood pressure (r=0.20), and total cholesterol (r=0.14). cigarette smokers had significantly higher levels of plasma homocysteine than the non-smokers. Further prospective studies are needed to investigate whether folate or other B vitamin supplementation could be beneficial for the prevention of hyperhomocysteinemia or macrovascular angiopathy in the diabetic patients.

• 대한예방의학회:학술대회논문집
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• 대한예방의학회 2004년도 제56차 추계 학술대회 연제집
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• pp.50.2-50.2
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• 2004

• 대한유전성대사질환학회지
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• 제11권1호
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• pp.103-105
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• 2011

고호모시스틴혈증(hyperhomocysteinemia)은 호모시스테인과 메티오닌의 대사과정에 관여하는 여러 효소들의 결핍에 의해 발생할 수 있으며, 대표적인 효소 결핍으로는 cysthathione beta-synthase (CBS) 결핍증, Methionine synthase (MS) 결핍증, methylenetetrahydrofolate reductase (MTHFR) 결핍증이 있다. 이들은 고호모시스테인혈증을 보이나 임상증상, 메티오닌의 동반 상승, 거대적아구성빈혈, 메칠말로닌산뇨증등의 동반 여부등을 토대로 감별진단에 도움을 받을 수 있다. 본 연자는 뇌혈전증과 뇌졸중을 동반하는 고호모시스테인혈증의 원인으로 MTHFR 유전자의 돌연변이를 발견한 증례를 경험하였기에 이를 보고하는 바이다.

• 한국영양학회:학술대회논문집
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• 한국영양학회 2002년도 춘계학술대회
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• pp.99-99
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• 2002