• 생물정신의학
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• 제10권1호
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• pp.80-84
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• 2003

Objective : Bipolar disorder is known to have strong genetic background and cellular immune activation. Based on the hypothesis that abnormalities of normal inhibitory control of T cell immunity can contribute to the pathophysiology of bipolar disorder, we investigated the relationship between the first exon at position +49(A/G) polymorphism of cytotoxic T lymphocyte antigen 4(CTLA4) gene and bipolar disorder. Method : Among the Korean patients diagnosed as bipolar disorder according to DSM-IV, 90 patients without serious medical illness, neurologic illness, hormonal disorder, or concomitant mental illness were selected. The normal control group consisted of 149 age-and sex-matched subjects without current or past history of autoimmune diseases or mental disorder. DNA was extracted from whole blood and the exon 1 region of CTLA-4 gene was amplified by polymerase chain reaction. Gene typing was performed using single strand conformation polymorphism. Results : There were no significant differences in genotype frequencies of G/G, G/A, and A/A between the patients with bipolar disorder and the control group(48.9% vs 46.3%, 44.4% vs 39.6%, and 6.7% vs 14.1%, respectively). There were no significant differences in allelic frequencies of G and A between the patients with bipolar disorder and the control group(71.1% vs 66.1%, and 28.9% vs 33.9%, respectively). Conclusion : This study did not show the association of exon 1 polymorphism of CTLA-4 gene with bipolar disorder.

• 생물정신의학
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• 제14권1호
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• pp.55-60
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• 2007

Objectives : There have been many association studies of panic disorder. However, studies about the dopaminergic function in panic disorder have been few. This study was aimed to examine the possible association of dopamine transporter gene(DAT1) polymorphism and panic disorder in Korean population. Methods : Ninety-eight patients with panic disorder(43 male(46.9%), mean age $42.13{\pm}10.88$ years) and one hundred and thirteen comparison subjects(67 male(40.7%), mean age $33.14{\pm}8.55$ years) were tested for DAT1 polymorphism. Genotypes of DAT1 with variable number of tandem repeats(VNTR) were determined using polymerase chain reaction. The differences of allelic frequency and genotype frequency distribution between patient and the control group were tested with Fisher-Freeman-Halton test. Results : There was association between DAT1 polymorphism and panic disorder(allele : p<0.03, genotype : p<0.05). The frequency of 10/10 homozygotes of DAT1 was significantly higher in control group(${\chi}^2$=4.452, df=1, p=0.035). Conclusion : These results in our Korean samples suggest that DAT1 polymorphism might be associated with the vulnerability of panic disorder. Possible association of dopaminergic genes and panic disorder should be investigated with future studies using larger and different population.

• Kidney Research and Clinical Practice
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• 제34권1호
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• pp.53-56
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• 2015

MYH9-related disorder is an autosomal dominant disease caused by a mutation in the MYH9 gene, which encodes nonmuscle myosin heavy chain IIA (NMMHC-IIA). This disease is characterized by giant platelets, thrombocytopenia, granulocyte inclusion bodies, proteinuria, and high-pitch sensorineural deafness. Nephropathy has been observed in 30% of patients with MYH9-related disorder. The characteristic features are early onset proteinuria and rapidly progressing renal disorder. However, the prognosis of MYH9 nephropathy remains unclear. Herein, we describe a 36-year-old woman who presented with proteinuria and was diagnosed with MYH9 nephropathy via renal biopsy and gene analysis. Her proteinuria improved after administration of an angiotensin II receptor blocker, but was aggravated after changing to a calcium channel blocker.

• 생물정신의학
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• 제19권3호
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• pp.134-139
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• 2012

Objectives : Proinflammatory process has been implicated as an underlying mechanism of bipolar disorder and schizophrenia. Previous studies have suggested a possible role of lymphotoxin alpha (LTA) gene in the development of schizophrenia and have prompted further investigation in bipolar patients. Association of the LTA +252A/G polymorphism with susceptibility to bipolar I disorder itself as well as with vulnerability among a subset of psychotic bipolar patients were tested. Methods : DNA extraction was done by a standard method and genotyping was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 114 Korean patients with bipolar I disorder and 202 healthy controls. SPSS v18.0 was used for statistical analysis. Comparisons of the genotype and allele distributions in LTA +252A/G polymorphism were made using a chi-square test. The genotype and allele associations were also evaluated using odds ratio (OR) and 95% confidence interval (CI). Statistical significance was accepted when p was < 0.05. Results : No significant association was found between the LTA +252A/G polymorphism and bipolar disorder. However, LTA +252G allele was present with significantly higher frequency among bipolar patients with psychotic features compared to those without (${\chi}^2$ = 4.69, p = 0.034, OR = 2.495, 95% CI = 1.069-5.827). Conclusion : The results suggest that the allele LTA +252G of the polymorphism may be associated with the psychotic subset of bipolar disorder but not with bipolar I disorder itself. Adequately powered subsequent studies should be conducted.

• 한국자기학회:학술대회 개요집
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• 한국자기학회 2010년도 임시총회 및 하계학술연구발표회
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• pp.61-61
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• 2010

• 한국광물학회지
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• 제6권2호
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• pp.57-79
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• 1993

백운암질 대리암의 다변성 교대 작용에 의해서 생성된 춘천 연옥은 산출 상태, 광물상 및 조직상의 특징에 따라 연녹색 연옥, 녹색 연옥, 암녹색 연옥, 및 회색 연옥으로 구분된다. 연옥은 주로 극미립상(대개 $2{\mu}m$ 이내의 결정폭)의 침상 내지 섬유상(결정의 길이/폭 비>10) 투각섬석 결정들로 구성되고 미립의 투휘석, 방해석, Mg-녹니석, 스핀 등이 불순물로서 극소량 수반된다. 연옥 특유의 강한 인성은 편향 결정화된 연옥질 투각섬석 결정들이 다소 만곡된 형태로 섬유상의 치밀한 조직을 이루는 것에 기인한다. 춘천 연옥 특유의 녹색은 발색소로서 Cr이나 Ni보다 Fe 함유 정도에 보다 의존되는 경향을 보인다. 그러나 연옥의 다양한 색깔과 색조는 그외에 연옥의 결정도 및 조직 그리고 불순 광물의 종류 및 함유 정도에도 영향을 받는 것으로 나타난다. 연옥질 투각섬석은 주요 성분들의 함유도에 있어서 다소 산포되는 양상을 나타내고, 녹색의 색조가 상대적으로 짙은 연옥일수록 Al과 Mg/Ca의 함유 정도가 보다 높은 경향을 보인다. 또한 Fe의 함유 정도는 전반적으로 낮은 수준이지만 암녹색 연옥에서의 투각섬석이 상대적으로 다소 높게 함유되는 특징이 있다. 연옥질 투각섬석은 고분해능 투과 전자현미경 하에서 주로 3중의 쇄형 격자 단위가 불규칙하게 정상의 2중 쇄형 격자들 사이에 개재되어 소위 피리볼 구조형을 이루는 현상이 흔히 관찰된다. 이와 같은 일종의 혼성 격자 구조는 모든 유형의 춘천 연옥에서 나타나는 것으로, 3중 쇄형 격자 이외에 5중 쇄형 격자와 드물게 4중 쇄형 격자(회색 연옥)도 정상적인 2중 쇄형 격자들 사이에서 불규칙적으로 다양하게 혼재한다. 연옥질 투각섬석의 2중 쇄형 격자에서 보다 폭이 넓은 쇄형 구조 단위들의 불규칙한 혼재 양상은 연옥의 녹색이 짙을수록 심화된다. 이는 투각섬석의 결정 화학적 측면에서 Al과 Mg/Ca의 함유비 증가, 화학적 일정성의 저하, (110) X-선 회절선의 강도 저하, 및 b축 단위포 격자 상수 값의 증가와 밀접히 연관된다. 춘천 연옥에서 관찰되는 혼성 격자 구조의 존재 형식과 빈도 추이는 연옥의 생성이 Mg이 풍부한 광화 용액의 급격한 확산과 이에 따른 높은 준안정도 조건에서 이루어졌음을 시사하는 것으로 해석된다.

• Journal of Korean Neurosurgical Society
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• 제29권2호
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• pp.188-195
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• 2000

Objective : Essential tremor(ET) is the most common movement disorder, however, there has been little agreement in the neurologic literature regarding diagnostic criteria for ET. Familial ET is an autosomal dominant disorder presenting as an isolated postural tremor. The main feature of ET is postural tremor of the arms with later involvement of the head, voice, or legs. In previous studies, it was reported that ET susceptibility was inherited in an autosomal dominant inheritance. As previous results, it would suggest that ET might be associated with defect of mitochondrial or nuclear DNA. Recent studies are focusing on molecular genetic detection of movement disorders, such as essential tremor and restless legs syndrome. Moreover, authors have analysed mitochondrial DNA(mtDNA) from the blood cell of positive control(PC) and ET patients via long and accurate polymerase chain reaction(LA PCR). Materials & Methods : Blood samples were collected from PC and 9 ET patients. Total DNA was extracted twice with phenol followed by chloroform : isoamylalcohol. For the analysis of mtDNA, LA PCR was performed by mitochondrial specific primers. Results : With this technique, deletions of large quantities were detected within several regions of mtDNA in ET patients except for D-loop and CO I regions. Conclusion : The authors believe that ET is a genentic disorder with deficiency of mitochondrial DNA multicomplexes and mitochondiral dysfunction could be one of major causative factors of ET. Mitochondrial dysfunction may play an important role in the pathogenesis and possibility of disease progression among familial group with ET patients.

• 생물정신의학
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• 제10권2호
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• pp.121-125
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• 2003

Objective:Recently, many experimental evidences have been reported that psychiatric diseases are closely related with neurodevelopmental abnormalities and this can be properly explained by apoptosis. It is known that Apo-1/Fas is one of the genes in charge of apoptosis related with neurodevelopmental abnormalities. In this study, the association between bipolar disorder and functional polymorphism in Apo-1/Fas promoter gene has been investigated. Method:For 81 bipolar disorder patients and 217 healthy control subjects, MvaI restriction fragment length polymorphism(RFLP) of Apo-1/Fas promoter gene was analyzed after polymerase chain reaction(PCR) amplification. Result:There was a statistical significant difference in genotypic distribution(${\chi}^2$=16.656, df=2, p=0.0002) and allelic frequencies(${\chi}^2$=14.225, df=1, p=0.0002) between bipolar disorder patients and healthy control subjects. Conclusion:Our results suggest an association between functional polymorphism in Apo-1/Fas promoter gene and bipolar disorder and provide the important genetic information related with the pathogenesis of the disease. Further studies employing larger samples are required to clarify the present results.

• 대한유전성대사질환학회지
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• 제15권2호
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• pp.98-100
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• 2015

경쇄 acyl-CoA 탈수소효소 결핍증(short chain acyl-CoA dehydrongenase deficiency, SCAD)은 미토콘드리아에 존재하는 효소 중 하나인 경쇄 acyl-CoA 탈수소효소(short chain acyl-CoA dehydrongenase, SCAD)의 결핍으로 인하여 지방산 산화의 장애를 초래하는 대사질환이다. 이 질환의 임상증상은 성장 부전, 대사성 산증, 저혈당, 발달 지연, 발작 및 신경 근육 증상, 근력 저하 등 매우 다양하다. 저자들은 무증상 신생아에서 신생아 선별검사를 통해 혈청 C4-butyrylcarnitine이 증가하고 소변의 ethylmalonic acid가 증가된 소견이 관찰되어 경쇄 acyl-CoA 탈수소효소 결핍증을 진단하였다. 생후 8개월까지 특이 증상 없이 추적관찰 중으로 정상적인 성장과 발달을 보였기에 이에 증례를 보고하는 바이다.

• Journal of Life Science
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• 제9권1호
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• pp.1-4
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• 1999

Large-scale deletions of mitochondrial DNA(mtDNA) have been documented in patients with mitochondrial myopathies and seem to be especially frequent in patients with Kearns-Sayre syndrome (KSS). About one third of all patients shows a 4,977 bp deletion, known as the "common deletion", that removes a segment of DNA that includes several genes encoding for respiratory chain subunits. In this disorder, the population of deleted mtDNA molecules coexists with population of normal, wild-type full length mtDNAs, a situation known as heteroplasmy. We have performed polymerase chain reaction (PCR) on paraffin-embedded muscle tissues from two korean KSS patients. The PCR analysis revealed the existence of two amplified fragments, the deleted fragments, the deleted fragment of 123 bp characteristic for common deletion and the wild-type fragment of 152 bp.of 152 bp.