• Journal of Genetic Medicine
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• 제4권1호
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• pp.22-37
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• 2007

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.

• 대한한방내과학회지
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• 제37권2호
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• pp.322-329
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• 2016

Objective: This study reports on one clinical case of type 3 spinocerebellar ataxia (SCA) to examine the effectiveness of herbal medicine and traditional Korean treatments.Methods: A patient with type 3 spinocerebellar ataxia was treated using traditional Korean medicine options such as acupuncture and Hyangsayukgunja-tang. The effects on type 3 spinocerebellar ataxia were measured using the numeric rating scale (NRS) and ambulatory status.Results: Improvements in NRS and ambulatory status were observed after treatment.Conclusion: According to this study, traditional Korean medicine may be effective in the treatment of type 3 spinocerebellar ataxia.

• 사상체질의학회지
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• 제31권3호
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• pp.9-18
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• 2019

Objectives Sasang Constitutional Medicine(SCM) is uniquely established in the field of Korean Medicine. Taegeuk Acupuncture(TGA) and Eight Constitution Acupuncture(ECA) which are created upon SCM are applied in clinics. However, there exists no established theory but hypothesis with regard to the composition of acupoints of constitution acupuncture. The purpose of this study was to help establish the Sasang constitution acupuncture(SCA) method. Methods Thirties studies were found on various Oriental medicine journals and 17 literatures with the key words relevant to constitution and acupuncture. Results For the principle of acupoint selection, 12 studies were included which were classified into TGA, ECA, SCA, other constitution acupuncture. Among 17 literatures, most of them were relevant to SCA. For the clinical studies, eight of total 13 using ECA were for musculoskeletal diseases. Conclusions Among studies and literatures chosen, the application of Saam's acupuncture method was most frequently found in SCA method. For establishing the SCA method, the two main concepts need to be considered, which are the consideration of four areas namely Lungs, Spleen, Liver and Kidneys and upward-downward-loosening-tightening movement of the Qi according to Sasang constitution type.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.84-87
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• 2007

척수소뇌성 실조증3는 신경세포의 손상으로 인해 생기는 질병으로 염색체14q32.1지역에 반복적인 CAG 삼염기 서열이 증가하면서 일어나는 것으로 알려져 있다. 본 증례는 척수소뇌성 실조증3으로 진단을 받은 부부에서 자연 임신한 태아를 산전진단한 경우로서 형광으로 포식된 표지자를 이용하여 CAG 지역을 증폭하여 빠르고 정확하게 반복수를 확인하는 방법을 이용하였다. 남편의 경우 CAG반복을 넘는 69개의 반복과 정상인 27개의 반복된 유전자를 갖고 있는 것으로 확인하였으며, 산모의 경우 정상인 26과 32개의 반복된 유전자를 갖고 있는 것으로 확인하였다. 태아는 부계의 27과 모계의 26개를 갖는 정상 유전자를 물려 받은 것으로 확인되어 건강한 아기를 분만하였다. 형광을 이용한 진단방법은 방사능을 사용하는 방법에 비해 안전하고 빠른 진단을 할 수 있으며 시료 채취 후 5-6시간 안에 정확하게 결과를 확인할 수 있는 방법이라 생각된다.

• 한국작물학회지
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• 제51권7호
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• pp.652-657
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• 2006

참깨는 무한화의 특성을 지니고 있어 수확시 필연적으로 미등숙 종실의 발생과 탈립으로 인한 수량 손실이 발생하는 등 재배상 여러 가지 문제점을 야기하는데, 현재 개발되고 있는 내탈립성 참깨들은 이러한 문제점을 해결해 줄 수 있을 것으로 기대되고 있다. 본 연구는 새로 개발된 내탈립성 참깨와 기존품종들 간의 이면교잡을 실시하여 탈립성을 포함한 주요양적형질에 대한 잡종강세 및 조합능력을 분석하였으며, 그 결과를 요약하면 다음과 같다. 1. 탈립율은 모든 조합에서 탈립율이 증가하는 방향으로 잡종강세가 작용하였으며 PA형(수원195호)/ID형(SIG960320-5-1-1) 조합에서 가장 컸는데, 이는 탈립 저항성과 관련된 형질이 모두 열성으로 $F_{1}$ 세대에서는 그 특성이 발현되지 않았기 때문이었다. 2. 잡종강세 발현은 주당삭수, 주당수량 및 분지수 등에서 컸으며, 경장과 착삭부위장에서는 적게 나타났다. 3. 일반조합능력(GCA)은 6개 형질 모두에서 유의성이 인정되었으며, 특정조합능력(SCA)에서는 탈립율, 주당삭수 및 주당수량에서 유의성을 보였다. 4. 모든 형질에서 GCA분산이 SCA 분산보다 커서 상가적 유전자 작용의 효과가 더 큰 것으로 추정되었다. 5. 교배친의 GCA 검정에서 수원195호는 탈립율과 경장의 감소효과가 크고 주당삭수와 주당수량을 증대시키는 효과를, SIG96320-5-1-1은 주당수량 감소와 경장을 증가시키는 효과를 보였다. 교배조합별 SCA는 양백깨/수원195호 조합은 주당삭수 증대면에서, 안산깨/SIG96320-5-1-1 조합은 주당수량 증대면에서, 안산깨/수원177호 조합은 탈립율 감소면에서 가장 큰 효과를 나타냈다.

• 한국콘텐츠학회:학술대회논문집
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• 한국콘텐츠학회 2018년도 춘계 종합학술대회 논문집
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• pp.551-552
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• 2018

K/BxN serum can induce arthritis in normal mice because of abundant autoantibodies that trigger an innate inflammatory response in joints. To determine whether IL-17 is involved in the pathogenesis of serum-induced arthritis, we injected wild-type and $IL-17^{-/-}$ mice with K/BxN serum and evaluated them for signs of arthritis. Unlike wild-type mice, $IL-17^{-/-}$ mice did not show any signs of arthritis. IL-17 was produced predominantly by $CD3^-CD4^-gdTCR^-NK1.1^-Sca1^{int}Thy1^{hi}$ cells residing in the inflamed synovial tissue. When synovial cells extracted from normal joints were stimulated with IL-23 or autoantibody-containing immune complexes, a substantial fraction of $Sca1^{int}Thy1^{hi}$ cells produced IL-17. Thus, we have identified a novel population of IL-17-producing innate synovial cells that play a crucial role in the development of K/BxN serum-induced arthritis.

• 한국연초학회지
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• 제7권2호
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• pp.111-121
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• 1985

The present study was carried out to obtain some basic informations of the breeding of tobacco varieties. Genetically divergent 8 varieties, 3 flue-cured, 2 burley and 3 sun-cured tobaccos, were used in half diallel cross. In order to analyze the heterosis, combining abilities, modes of inheritance and correlations for some agronomic and chemical characters, 8 parents and 28 $F_2$ were tested. The results obtained were summarized as follows: The percentages of heterosis for yield, stem diameter, internode length and total sugar content in $F_2$ hybrid were positive , where-as those for the other characters were negative. Yield had significant positive genotypic and phenotypic correlations with plant height, days to flower, leaves per plant, leaf length, leaf width and leaf shape index (Leaf length/leaf width). General (GCA) and specific combining abilities (SCA) for all characters of $F_2$ hybrid were significant. In the effect of GCA, yield was greater in combinations of Bulgaria and Xanthi, days to flower and leaves per plant were those of Burley 21 and Va 528, leaf length and width were those of Coker 139, respectively. In the effect of SCA, the major part of characters were greater than those of others in the combinations of Burley 21, Va 528, Hicks.

• 한국연초학회지
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• 제7권2호
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• pp.99-109
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• 1985

The present studies were carried out to obtain some basic informations of the breeding of tobacco varieties. Genetically divergent 8 varieties, 3 flue-cured, 2 burley and 3 sun-cured tobaccos, were used in half diallel cross. In order to analyze the heterosis, combining abilities, modes of inheritance and correlations for some agronomic and chemical characters, 8 parents and 28 $F_1$ were tested. The results obtained were summarized as follows: The percentages of heterosis for stem diameter, internode length and total sugar content in $F_1$ hybrid were 3.6%, 3.1% and 10.6%, whereas these for days to flower, total alkaloids and leaves per plant were -6.3%, -6.9% and -5.0%, respectively. Yield had significant positive genotypic correlations with plant height, days to flower and leaf length, but negative with internode length and total sugar content. It also had significant prositive phenotypic correlations with plant height, days to flower, leaves per plant, leaf length, leaf width and leaf shape index (Leaf length/leaf width). General (GCA) and specific combining abilities (SCA) for all characters of $F_1$ hybrid were significant. The effects of GCA were positive on yield, plant height, stem diameter, leaves per plant and days to flower of Burley 21. And those were positive on yield, leaf shape index and plant height, but negative on leaves per plant and total nitrogen of Hicks. The effects of SCA for yield and leaves per plant were greater than those of others on the combinations of Coker 139 and Burley type, respectively.

• 대한약학회:학술대회논문집
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• 대한약학회 2003년도 Proceedings of the Convention of the Pharmaceutical Society of Korea Vol.1
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• pp.285.1-285.1
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• 2003

ChiroSil RCA(+) and SCA(-) HPLC chiral stationary phases (CSPs) developed by covalently bonding (+)- and (-)-(18-crown-6)-2,3,11,12-tetracarboxylic acid (18-C-6-T A) to silica gel were employed for enantioresolution of racemic amino compounds, respectively. Also, these 18-C-6-TA covalently bonded CSPs were compared to a commercially available Crownpak CR CSP prepared by coating chiral crown ether as a chiral selector on ODS column. (omitted)

• 대한소아신경학회지
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• 제25권3호
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• pp.200-203
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• 2017

척수소뇌실조는 임상적으로 다양하게 나타나는 보통염색체 우성신경변성 (혹은 퇴행성) 질환군으로서, 소뇌의 들과 날의 경로를 분열시켜 소뇌 실조를 일으키는 것으로 알려져 있다. 전형적인 임상증상은 30에서 40대에 발현되기 시작하고, 보행실조, 불분명 발음, 시력 이상, 사지의 조화운동 불능, 안구 움직임 제한, 인지 장애 등 다양한 증상의 조합을 특징으로 한다. 본 증례의 환아에서는 exome sequencing을 통하여 SPTBN2 (p.Glu1251Gln)의 새로운 이형접합 돌연변이를 발견하였으며 이것이 SCA5의 원인으로 밝혀졌다. 증례의 환아는 3년 5개월 때 발달지연을 주소로 본원에 내원하였다. 발달지연을 평가하기 위해 베일리 발달 검사에서 모든 영역에서 현저한 지연이 확인되었다. 본원 내원 1년 전 시행한 뇌자기공명영상에서 백샐질형성장애와 약간의 소뇌 위축이 보였다. 잠재적인 유전질환을 의심하여 진단 목적으로 전체엑솜염기서열분석을 시행하였고 결과적으로 SPTBN2의 새로운 이형접합 돌연변이 (p.Glu1251Gln) 가 SCA5의 원인 돌연변이로 사료된다. 척수소뇌실조에서 유전자의 역할을 명확하게 규명하기 위해서는 전체엑솜염기서열 분석을 포함한 다양한 방법을 통한 유전자 연구가 필요할 것으로 사료된다.