• 생물정신의학
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• 제18권4호
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• pp.176-180
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• 2011

Depressive disorders have strong genetic components. However, conventional linkage and association studies have not yielded definitive results. These might be due to the absence of objective diagnostic tests, the complex nature of human behavior or the incomplete penetrance of psychiatric traits. Imaging genetics explores the influences of genetic variation on the brain function or structure. This technique could provide a more sensitive assessment than traditional behavioral measures in psychiatric studies. Imaging genetics is a relatively new field of psychiatric researches, and may improve our understanding on neurobiology of psychiatric disorders. In this review, current understanding in neurobiology of depressive disorders, especially imaging genetic studies on serotonin transporter will be discussed.

• 생물정신의학
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• 제1권1호
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• pp.60-66
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• 1994

Advances in molecular biology have renewed hope for the discovery of disease relevant gene. The basic strategy is gene mapping and likely to have on important role in psychiatric research and practice. Recent linkage studies of chromosomal loci to psychiatric diseases shed light on the potential for new genetics in psychiatric science. This article reviews molecular application to psychiatrymethodological issues in genetic linkage, study of gene expression by analysis of mRNA, and current linkage studies in psychiatric diseases.

• 생물정신의학
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• 제7권2호
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• pp.123-130
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• 2000

The development of inexpensive high throughput methods to identify individual DNA sequences is important to the future growth of medical genetics. This has become increasingly apparent as psychiatric geneticists focus more attention on the molecular basis of complex multifactorial diseases at which most of psychiatric disease is estimated. Furthermore, candidate gene approaches used in identifying disease associated genes necessitate screening large sequence blocks for changes tracking with the disease state. Even after such genes are isolated, large scale mutational analysis will often be needed for risk assessment studies to define the likely medical consequences of carrying a mutated gene. This review provide basic knowledge of up-to-date technology, cDNA microarray which enables above mentioned various research themes.

• Genomics & Informatics
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• 제2권1호
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• pp.1-6
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• 2004

• 생물정신의학
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• 제23권3호
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• pp.69-79
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• 2016

Frontotemporal dementia (FTD) is a degenerative disease characterized by the selective frontal and temporal lobe atrophy, and progressive deficits in behavior, executive function, or language. The prevalence and incidence of FTD are 15-22/100000 and 2.7-4.1/100000, respectively, in midlife. Hereditary is an important risk factor for FTD. Although there is some controversy regarding the further syndromatic subdivision of the different types of FTD, FTD is clinically classified into behavioral variant of frontotemporal dementia, semantic dementia and progressive nonfluent aphasia. FTD can be misdiagnosed as many psychiatric disorders because of similarity of the prominent behavioral features. Advances in clinical, imaging, and molecular characterization have increased the accuracy of FTD diagnosis, thus developing for the accurate differentiation of these syndromes from psychiatric disorders. We also discuss about therapeutic strategies for symptom management of FTD. Medications such as serotonin reuptake inhibitors, antipsychotics, and other novel treatments have been used in FTD with various rates of success. Further advanced research should be directed at understanding and developing new diagnostic and therapeutic modalities to improve the FTD patients' prognosis and quality of life.

• 생물정신의학
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• 제19권1호
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• pp.29-37
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• 2012

LDAEP와 세로토닌 기능 간의 직접적인 관계의 초기 증거들은 동물 실험으로부터 도출되었고 이후 세로토닌성 장애에 기반한 질병들의 임상 실험을 통하여 간접적인 뒷받침이 이루어 져왔다. 현재까지 LDAEP와 세로토닌 사이의 연관성을 확인해주는 증거는, 우선 세로토닌 시스템 내에서 유전적 polymorphism을 연구하는 것을 통해, 그리고 직접적으로 약물을 투여 하는 방식으로 확보되었다. LDAEP가 연관된 대부분의 연구는 모노아민 시스템에 초점을 맞춰왔으나 LDAEP에 대한 다른 신경전달 시스템의 효과는 거의 알려진 바가 없다. 향후 세로토닌 외에도 도파민, 노르에피네프린, 아세틸콜린 등 다른 신경전달물질과의 연관성에 대한 연구가 필요하다. In vivo 중추 세로토닌 기능의 유효한 비침습적 표지자로서 LDAEP를 확정짓기 전에, 단기적 조절뿐 아니라 장기적 세로토닌성 조절이 포함된 더 많은 연구가 필요하다. 현재까지의 증거로 보면 LDAEP의 가장 유망한 활용은 초기 항우울 치료반응과 관련된 생물학적 지료서의 활용이다. 최근의 연구들은 LDAEP의 노르아드레날린성 그리고 세로토닌성 항우울제 반응에 대한 민감도를 확인했으며 이러한 긍정적인 기초 결과들을 재현하기 위하여 더 많은 연구들이 필요하다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제16권1호
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• pp.5-14
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• 2005

이전까지는 많은 정신장애가 유전으로 대표되는 생물학적 소인과 환경적 소인에 의한 것이라는 논의는 많았지만 실제 유전적 소인이 구체적으로 어떻게 장애의 발병과 임상 경과에 관여하는 지에 대한 명확한 증거를 갖기 어려웠다. 그러나 최근 들어 분자 생물학, 분자 유전학, 신경과학 등의 학문의 발달로 인해 유전 인자가 정상 또는 비정상 발달에 어떻게 기여 하는가에 대한 객관적 증거들이 많아지면서 좀더 이런 영향에 대한 조망이 용이해진 상황이다. 향후 이 분야들의 발달은 더욱 다양한 정신 장애에서 유전 인자의 역할을 밝혀 줄 것이며 정신과 임상 영역에서 유전적 검사를 통해 정신 장애를 진단하게 되는 것도 가능하게 해 줄 것이다.

• 생물정신의학
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• 제5권1호
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• pp.17-33
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• 1998

Advances in molecular biology contribute to the understanding genetic mechanism of psychiatric disorders. They have renewed hope for the discovery of disease relevant gene. However, the results somewhat confused. And we will wait for a long time for the application of gene therapy in schizophreniar. Fortunately we could classified the schizophrenia with genotypes of dopamine and serotonin receptors. It is expected that this genetic classification could provide key strategy for the therapeutic application in biological treatment for schizophrenia. The purpose of this article is to call attention of the institute participants to linkage, association, mRNA expression, genotypic classification and to the need for more systemic research. The author summarized the modified methods which were done in his laboratory in appendix.

• 수면정신생리
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• 제20권2호
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• pp.53-58
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• 2013

Autism Spectrum Disorder (ASD) is characterized by persistent deficits in social communication and restricted, repetitive patterns of behavior and interest. Sleep problems are not uncommon in children with autism spectrum disorders. Symptoms of insomnia are the most frequent sleep problems in individuals with ASD. Sleep problems can cause significant difficulties in the daily life of children with ASD and their families. Genetic factor, deregulations of melatonin synthesis, extraneous environmental stimuli and psychiatric and medical conditions may cause sleep problems. The first line treatment of sleep problems in ASD includes managements for potential contributing factors and parent education about sleep hygiene care for child and behavioral therapy. Supplementation with melatonin may be effective before considering other medications, such as risperidone, clonidine, and mirtazapine.

• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.