• Journal of Genetic Medicine
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• v.4 no.1
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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.

• The Journal of Internal Korean Medicine
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• v.37 no.2
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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.

• Journal of Sasang Constitutional Medicine
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• v.31 no.3
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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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• v.4 no.1
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• pp.84-87
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• 2007

Spinocerebellar Ataxia Type 3 (SCA 3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age at onset of disease is related to the size of the expanded CAG repeat. We present the prenatal diagnosis of SCA3 in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. The diagnosis was made using PCR with a fluorescent probe for an expanded MJD allele. The normal ranges of (CAG)n of SCA3 are 14~38 repeats. The husband, who had a family history of SCA 3, has an expanded allele of 69 CAG repeats with a normal allele of 27 repeats. His wife had two normal alleles with 26 and 32 CAG repeats. The fetus had two normal alleles with 26 and 27 CAG repeats; consequently, the baby w as healthy. We report a case of prenatal diagnosis of SCA3 using a fluorescent PCR which is rapid and accurate.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.51 no.7
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• pp.652-657
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• 2006

Combining ability and heterosis for $F_{1}$ population obtained $5{\times}5$ half diallel cross in sesame were estimated for six quantitative characters. The parental varieties used for diallel cross were Yangbaek and Ansan of normal type, Suwon 177 and 195 of placenta adhesion type (PA) and SIG960320-5-1-1 of indehiscent type (ID). PA and ID type are shattering-resistant sesames and Yangbaek and Ansan are shattering sesames. The high heterosis of $F_{1}$ hybrids was expressed in the number of capsules per plant (NC), grain yield per plant (GY) and number of branches per plant (NB). Shattering.ate (SR) showed high positive heterosis toward increase of seeds shattering in all the combination of $F_{1}$ generation which was presumed because the characters connected with shattering resistance of seeds were governed by recessive gene. At the analysis of combining ability, highly significant general combining ability (GCA) effects were observed on all the characters in $F_{1}$ generation, significant specific combining ability (SCA) effects were observed on the NC, GY and SR. GCA variances were greater than SCA variance, which suggested that additive gene effects were greater than other nonadditive gene effects. Considering the estimated GCA effects, Suwon 195 (PA type) was found to be good parent for SR and GY, SIG960320-5-1-1 (ID type) was poor for GY and plant height. SCA effect for NC was great in Yangbaek/Suwon 195, SCA for GY was great in Ansan/SIG960320-5-1-1, and SCA for decrease of SR was great in Ansan/Suwon177.

• Proceedings of the Korea Contents Association Conference
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• 2018.05a
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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.

• Journal of the Korean Society of Tobacco Science
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• v.7 no.2
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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.

• Journal of the Korean Society of Tobacco Science
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• v.7 no.2
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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.

• Proceedings of the PSK Conference
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• 2003.04a
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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)

• Journal of the Korean Child Neurology Society
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• v.25 no.3
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• pp.200-203
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• 2017

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the ${\beta}-III$ spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.